Name

TIMM44 Gene

translocase of inner mitochondrial membrane 44 homolog (yeast)

TIMM8BP1 Gene

translocase of inner mitochondrial membrane 8B pseudogene 1

IMMP2L Gene

IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)

This gene encodes a protein involved in processing the signal peptide sequences used to direct mitochondrial proteins to the mitochondria. The encoded protein resides in the mitochondria and is one of the necessary proteins for the catalytic activity of the mitochondrial inner membrane peptidase (IMP) complex. Two variants that encode the same protein have been described for this gene. [provided by RefSeq, Sep 2011]

TIMM17BP1 Gene

translocase of inner mitochondrial membrane 17 homolog B (yeast) pseudogene 1

MPV17 Gene

MpV17 mitochondrial inner membrane protein

This gene encodes a mitochondrial inner membrane protein that is implicated in the metabolism of reactive oxygen species. Mutations in this gene have been associated with the hepatocerebral form of mitochondrial DNA depletion syndrome (MDDS). [provided by RefSeq, Jul 2008]

TIMM10B Gene

translocase of inner mitochondrial membrane 10 homolog B (yeast)

FXC1, or TIMM10B, belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004]

TIMM50 Gene

translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae)

MINOS1P4 Gene

mitochondrial inner membrane organizing system 1 pseudogene 4

IMMP1LP1 Gene

IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) pseudogene 1

TIMM8A Gene

translocase of inner mitochondrial membrane 8 homolog A (yeast)

This translocase is involved in the import and insertion of hydrophobic membrane proteins from the cytoplasm into the mitochondrial inner membrane. The gene is mutated in Mohr-Tranebjaerg syndrome/Deafness Dystonia Syndrome (MTS/DDS) and it is postulated that MTS/DDS is a mitochondrial disease caused by a defective mitochondrial protein import system. Defects in this gene also cause Jensen syndrome; an X-linked disease with opticoacoustic nerve atrophy and muscle weakness. This protein, along with TIMM13, forms a 70 kDa heterohexamer. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2009]

TIMM8B Gene

translocase of inner mitochondrial membrane 8 homolog B (yeast)

This gene encodes a member of a well-conserved family of proteins with similarity to yeast Tim mitochondrial import proteins. This gene is encoded by a nuclear gene and is transported into the intermembrane space of the mitochondrion. When formed into complexes, these proteins guide membrane-spanning proteins across the mitochondrial intermembrane space before they are added into the mitochondrial inner membrane. This gene is adjacent to succinate dehydrogenase, subunit D (SDHD), in which mutations have been found in affected members of families with hereditary paraganglioma.[provided by RefSeq, Aug 2009]

TIMMDC1 Gene

translocase of inner mitochondrial membrane domain containing 1

TIMM9 Gene

translocase of inner mitochondrial membrane 9 homolog (yeast)

TIMM9 belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane.[supplied by OMIM, Apr 2004]

MINOS1P3 Gene

mitochondrial inner membrane organizing system 1 pseudogene 3

MINOS1P2 Gene

mitochondrial inner membrane organizing system 1 pseudogene 2

MINOS1P1 Gene

mitochondrial inner membrane organizing system 1 pseudogene 1

MINOS1 Gene

mitochondrial inner membrane organizing system 1

IMMT Gene

inner membrane protein, mitochondrial

IMMTP1 Gene

inner membrane protein, mitochondrial (mitofilin) pseudogene 1

TIMM23 Gene

translocase of inner mitochondrial membrane 23 homolog (yeast)

The protein encoded by this gene is part of a complex located in the inner mitochondrial membrane that mediates the transport of transit peptide-containing proteins across the membrane. Multiple transcript variants, one protein-coding and others not protein-coding, have been found for this gene. [provided by RefSeq, Jul 2012]

TIMM22 Gene

translocase of inner mitochondrial membrane 22 homolog (yeast)

TIMM17B Gene

translocase of inner mitochondrial membrane 17 homolog B (yeast)

This gene encodes a multipass transmembrane protein that forms an integral component of the mitochondrial translocase TIM23 complex. This complex facilitates the transport of mitochondrial proteins from the cytosol across the mitochondrial inner membrane and into the mitochondrion. There is a pseudogene for this gene on chromosome 12. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

TIMM17A Gene

translocase of inner mitochondrial membrane 17 homolog A (yeast)

IMMP1L Gene

IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae)

The mitochondrial inner membrane peptidase (IMP) complex generates mature, active proteins in the mitochondrial intermembrane space by proteolytically removing the mitochondrial targeting presequence of nuclear-encoded proteins. IMP1 and IMP2 (IMMP2L; MIM 605977) are the catalytic subunits of the IMP complex (Burri et al., 2005 [PubMed 15814844]).[supplied by OMIM, Sep 2008]

TIMM8BP2 Gene

translocase of inner mitochondrial membrane 8B pseudogene 2

TIMM13 Gene

translocase of inner mitochondrial membrane 13 homolog (yeast)

This gene encodes a member of the evolutionarily conserved TIMM (translocase of inner mitochondrial membrane) family of proteins that function as chaperones in the import of proteins from the cytoplasm into the mitochondrial inner membrane. Proteins of this family play a role in collecting substrate proteins from the translocase of the outer mitochondrial membrane (TOM) complex and delivering them to either the sorting and assembly machinery in the outer mitochondrial membrane (SAM) complex or the TIMM22 complex in the inner mitochondrial membrane. The encoded protein and the translocase of mitochondrial inner membrane 8a protein form a 70 kDa complex in the intermembrane space. [provided by RefSeq, Jul 2013]

TIMM10 Gene

translocase of inner mitochondrial membrane 10 homolog (yeast)

The mitochondrial protein encoded by this gene belongs to a family of evolutionarily conserved proteins that are organized in heterooligomeric complexes in the mitochondrial intermembrane space. These proteins mediate the import and insertion of hydrophobic membrane proteins into the mitochondrial inner membrane, functioning as intermembrane space chaperones for the highly insoluble carrier proteins. [provided by RefSeq, Nov 2011]

TIMM21 Gene

translocase of inner mitochondrial membrane 21 homolog (yeast)

IMMP1LP2 Gene

IMP1 inner mitochondrial membrane peptidase-like (S. cerevisiae) pseudogene 2

TIMM8AP1 Gene

translocase of inner mitochondrial membrane 8 homolog A (yeast) pseudogene 1

LOC105369987 Gene

mitochondrial inner membrane protease subunit 1 pseudogene

TIMM23B Gene

translocase of inner mitochondrial membrane 23 homolog B (yeast)

OPALIN Gene

oligodendrocytic myelin paranodal and inner loop protein

INCENP Gene

inner centromere protein antigens 135/155kDa

In mammalian cells, 2 broad groups of centromere-interacting proteins have been described: constitutively binding centromere proteins and 'passenger,' or transiently interacting, proteins (reviewed by Choo, 1997). The constitutive proteins include CENPA (centromere protein A; MIM 117139), CENPB (MIM 117140), CENPC1 (MIM 117141), and CENPD (MIM 117142). The term 'passenger proteins' encompasses a broad collection of proteins that localize to the centromere during specific stages of the cell cycle (Earnshaw and Mackay, 1994 [PubMed 8088460]). These include CENPE (MIM 117143); MCAK (MIM 604538); KID (MIM 603213); cytoplasmic dynein (e.g., MIM 600112); CliPs (e.g., MIM 179838); and CENPF/mitosin (MIM 600236). The inner centromere proteins (INCENPs) (Earnshaw and Cooke, 1991 [PubMed 1860899]), the initial members of the passenger protein group, display a broad localization along chromosomes in the early stages of mitosis but gradually become concentrated at centromeres as the cell cycle progresses into mid-metaphase. During telophase, the proteins are located within the midbody in the intercellular bridge, where they are discarded after cytokinesis (Cutts et al., 1999 [PubMed 10369859]).[supplied by OMIM, Mar 2008]

TMIE Gene

transmembrane inner ear

This gene encodes a transmembrane inner ear protein. Studies in mouse suggest that this gene is required for normal postnatal maturation of sensory hair cells in the cochlea, including correct development of stereocilia bundles. This gene is one of multiple genes responsible for recessive non-syndromic deafness (DFNB), also known as autosomal recessive nonsyndromic hearing loss (ARNSHL), the most common form of congenitally acquired inherited hearing impairment. [provided by RefSeq, Mar 2009]

MRPS31P4 Gene

mitochondrial ribosomal protein S31 pseudogene 4

SLC25A3P2 Gene

solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene 2

PTPMT1 Gene

protein tyrosine phosphatase, mitochondrial 1

ATP5C1 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the gamma subunit of the catalytic core. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene also has a pseudogene on chromosome 14. [provided by RefSeq, Jul 2008]

MRPS24P1 Gene

mitochondrial ribosomal protein S24 pseudogene 1

LOC100421594 Gene

mitochondrial carrier 2 pseudogene

LOC359819 Gene

mitochondrial ribosomal protein L39 pseudogene

MTCH2 Gene

mitochondrial carrier 2

MTCH1 Gene

mitochondrial carrier 1

This gene encodes a member of the mitochondrial carrier family. The encoded protein is localized to the mitochondrion inner membrane and induces apoptosis independent of the proapoptotic proteins Bax and Bak. Pseudogenes on chromosomes 6 and 11 have been identified for this gene. Alternatively spliced transcript variants encoding multiple isoforms have been observed. [provided by RefSeq, Oct 2012]

MARC1 Gene

mitochondrial amidoxime reducing component 1

MARC2 Gene

mitochondrial amidoxime reducing component 2

MIPEPP3 Gene

mitochondrial intermediate peptidase pseudogene 3

MIPEPP1 Gene

mitochondrial intermediate peptidase pseudogene 1

NMTRS-TGA3-1 Gene

nuclear-encoded mitochondrial transfer RNA-Ser (TGA) 3-1

MRPL3P1 Gene

mitochondrial ribosomal protein L3 pseudogene 1

MRPL42P5 Gene

mitochondrial ribosomal protein L42 pseudogene 5

MRPL42P4 Gene

mitochondrial ribosomal protein L42 pseudogene 4

MRPL42P1 Gene

mitochondrial ribosomal protein L42 pseudogene 1

MRPS35P2 Gene

mitochondrial ribosomal protein S35 pseudogene 2

MRPS35P3 Gene

mitochondrial ribosomal protein S35 pseudogene 3

MRPS35P1 Gene

mitochondrial ribosomal protein S35 pseudogene 1

NMTRL-TAA1-1 Gene

nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 1-1

MRPL22P1 Gene

mitochondrial ribosomal protein L22 pseudogene 1

MPC2 Gene

mitochondrial pyruvate carrier 2

MPC1 Gene

mitochondrial pyruvate carrier 1

The protein encoded by this gene is part of an MPC1/MPC2 heterodimer that is responsible for transporting pyruvate into mitochondria. The encoded protein is found in the inner mitochondrial membrane. Defects in this gene are a cause of mitochondrial pyruvate carrier deficiency. Several transcript variants, some protein coding and one non-protein coding, have been found for this gene. [provided by RefSeq, Aug 2012]

LOC101929104 Gene

mitochondrial import receptor subunit TOM22 homolog pseudogene

SLC25A37 Gene

solute carrier family 25 (mitochondrial iron transporter), member 37

SLC25A37 is a solute carrier localized in the mitochondrial inner membrane. It functions as an essential iron importer for the synthesis of mitochondrial heme and iron-sulfur clusters (summary by Chen et al., 2009 [PubMed 19805291]).[supplied by OMIM, Jan 2011]

SLC25A31 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31

Mitochondrial ADP/ATP carriers, such as SLC25A31, are nuclear-coded mitochondrial proteins that catalyze the exchange of ATP generated in mitochondria by ATP synthase (see MIM 108729) against ADP produced in cytosol by most energy-consuming reactions (Dolce et al., 2005 [PubMed 15670820]).[supplied by OMIM, Mar 2008]

SLC25A32 Gene

solute carrier family 25 (mitochondrial folate carrier), member 32

This gene encodes a member of the P(I/L)W subfamily of mitochondrial carrier family transport proteins. The encoded protein transports folate across the inner mitochondrial membrane. Alternatively spliced transcript variants have been described. [provided by RefSeq, Mar 2013]

LOC441996 Gene

aconitase 2, mitochondrial pseudogene

MRPS17 Gene

mitochondrial ribosomal protein S17

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S17P family. The encoded protein is moderately conserved between human mitochondrial and prokaryotic ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 1p, 3p, 6q, 14p, 18q, and Xq. [provided by RefSeq, Jul 2008]

CKMT2 Gene

creatine kinase, mitochondrial 2 (sarcomeric)

Mitochondrial creatine kinase (MtCK) is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Sarcomeric mitochondrial creatine kinase has 80% homology with the coding exons of ubiquitous mitochondrial creatine kinase. This gene contains sequences homologous to several motifs that are shared among some nuclear genes encoding mitochondrial proteins and thus may be essential for the coordinated activation of these genes during mitochondrial biogenesis. Three transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

MRPS9 Gene

mitochondrial ribosomal protein S9

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. [provided by RefSeq, Jul 2008]

MRPS7 Gene

mitochondrial ribosomal protein S7

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. In the prokaryotic ribosome, the comparable protein is thought to play an essential role in organizing the 3' domain of the 16 S rRNA in the vicinity of the P- and A-sites. Pseudogenes corresponding to this gene are found on chromosomes 8p and 12p. [provided by RefSeq, Jul 2008]

MRPS6 Gene

mitochondrial ribosomal protein S6

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S6P family. Pseudogenes corresponding to this gene are found on chromosomes 1p and 12q. [provided by RefSeq, Jul 2008]

MRPS5 Gene

mitochondrial ribosomal protein S5

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S5P family. Pseudogenes corresponding to this gene are found on chromosomes 4q, 5q, and 18q. [provided by RefSeq, Jul 2008]

MRPS2 Gene

mitochondrial ribosomal protein S2

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S2 family. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, May 2012]

CKMT1A Gene

creatine kinase, mitochondrial 1A

Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008]

CKMT1B Gene

creatine kinase, mitochondrial 1B

Mitochondrial creatine (MtCK) kinase is responsible for the transfer of high energy phosphate from mitochondria to the cytosolic carrier, creatine. It belongs to the creatine kinase isoenzyme family. It exists as two isoenzymes, sarcomeric MtCK and ubiquitous MtCK, encoded by separate genes. Mitochondrial creatine kinase occurs in two different oligomeric forms: dimers and octamers, in contrast to the exclusively dimeric cytosolic creatine kinase isoenzymes. Many malignant cancers with poor prognosis have shown overexpression of ubiquitous mitochondrial creatine kinase; this may be related to high energy turnover and failure to eliminate cancer cells via apoptosis. Ubiquitous mitochondrial creatine kinase has 80% homology with the coding exons of sarcomeric mitochondrial creatine kinase. Two genes located near each other on chromosome 15 have been identified which encode identical mitochondrial creatine kinase proteins. [provided by RefSeq, Jul 2008]

NADK2 Gene

NAD kinase 2, mitochondrial

This gene encodes a mitochondrial kinase that catalyzes the phosphorylation of NAD to yield NADP. Mutations in this gene result in 2,4-dienoyl-CoA reductase deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2014]

CA5B Gene

carbonic anhydrase VB, mitochondrial

Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VB is localized in the mitochondria and shows the highest sequence similarity to the other mitochondrial CA, CA VA. It has a wider tissue distribution than CA VA, which is restricted to the liver. The differences in tissue distribution suggest that the two mitochondrial carbonic anhydrases evolved to assume different physiologic roles. [provided by RefSeq, Jul 2008]

CA5A Gene

carbonic anhydrase VA, mitochondrial

Carbonic anhydrases (CAs) are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. CA VA is localized in the mitochondria and expressed primarily in the liver. It may play an important role in ureagenesis and gluconeogenesis. CA5A gene maps to chromosome 16q24.3 and an unprocessed pseudogene has been assigned to 16p12-p11.2. [provided by RefSeq, Jul 2008]

SLC25A5P2 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 2

SLC25A5P4 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 4

SLC25A5P7 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 7

ATP5L2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2

LOC100421620 Gene

polymerase (RNA) mitochondrial (DNA directed) pseudogene

MARS2 Gene

methionyl-tRNA synthetase 2, mitochondrial

This gene produces a mitochondrial methionyl-tRNA synthetase protein that is encoded by the nuclear genome and imported to the mitochondrion. This protein likely functions as a monomer and is predicted to localize to the mitochondrial matrix. Mutations in this gene are associated with the autosomal recessive neurodegenerative disease spastic ataxia-3 (SPAX3). [provided by RefSeq, Apr 2014]

LOC100128523 Gene

mitochondrial carrier 2 pseudogene

MRPS31P2 Gene

mitochondrial ribosomal protein S31 pseudogene 2

MRPS31P1 Gene

mitochondrial ribosomal protein S31 pseudogene 1

MRPS31P5 Gene

mitochondrial ribosomal protein S31 pseudogene 5

IARS2P1 Gene

isoleucyl-tRNA synthetase 2, mitochondrial pseudogene 1

SOD2P1 Gene

superoxide dismutase 2, mitochondrial pseudogene 1

LOC100127892 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene

NMTRQ-TTG8-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 8-1

LOC100420251 Gene

mitochondrial fission factor pseudogene

MRPS10P1 Gene

mitochondrial ribosomal protein S10 pseudogene 1

MRPS10P2 Gene

mitochondrial ribosomal protein S10 pseudogene 2

MRPS10P5 Gene

mitochondrial ribosomal protein S10 pseudogene 5

GFM1 Gene

G elongation factor, mitochondrial 1

Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors. Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. [provided by RefSeq, Jul 2008]

GFM2 Gene

G elongation factor, mitochondrial 2

Eukaryotes contain two protein translational systems, one in the cytoplasm and one in the mitochondria. Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. This gene encodes one of the mitochondrial translation elongation factors, which is a GTPase that plays a role at the termination of mitochondrial translation by mediating the disassembly of ribosomes from messenger RNA . Its role in the regulation of normal mitochondrial function and in disease states attributed to mitochondrial dysfunction is not known. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2013]

TEFM Gene

transcription elongation factor, mitochondrial

LOC100132621 Gene

mitochondrial fission regulator 2 pseudogene

NMTRQ-TTG2-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 2-1

MRPL10 Gene

mitochondrial ribosomal protein L10

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified three transcript variants that encode two different isoforms. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Nov 2010]

MRPL11 Gene

mitochondrial ribosomal protein L11

This nuclear gene encodes a 39S subunit component of the mitochondial ribosome. Alternative splicing results in multiple transcript variants. Pseudogenes for this gene are found on chromosomes 5 and 12. [provided by RefSeq, May 2014]

MRPL12 Gene

mitochondrial ribosomal protein L12

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which forms homodimers. In prokaryotic ribosomes, two L7/L12 dimers and one L10 protein form the L8 protein complex. [provided by RefSeq, Jul 2008]

MRPL13 Gene

mitochondrial ribosomal protein L13

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

MRPL14 Gene

mitochondrial ribosomal protein L14

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found at 17p13.3. [provided by RefSeq, Jul 2008]

MRPL15 Gene

mitochondrial ribosomal protein L15

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the EcoL15 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 15q. [provided by RefSeq, Jul 2008]

MRPL16 Gene

mitochondrial ribosomal protein L16

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

MRPL17 Gene

mitochondrial ribosomal protein L17

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

MRPL18 Gene

mitochondrial ribosomal protein L18

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L18P ribosomal protein family. Three polymorphic sites exist in this gene, one of which is three nt in length which causes an extra aa near the N-terminus. [provided by RefSeq, Jul 2008]

MRPL19 Gene

mitochondrial ribosomal protein L19

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

LOC729057 Gene

translocase of outer mitochondrial membrane 40 homolog (yeast) pseudogene

LOC388955 Gene

PRELI domain-containing protein 1, mitochondrial pseudogene

SOD2 Gene

superoxide dismutase 2, mitochondrial

This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

CARS2 Gene

cysteinyl-tRNA synthetase 2, mitochondrial (putative)

This gene encodes a putative member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of cysteine to tRNA molecules. A splice-site mutation in this gene has been associated with a novel progressive myoclonic epilepsy disease with similar symptoms to MERRF syndrome. [provided by RefSeq, Mar 2015]

HSCB Gene

HscB mitochondrial iron-sulfur cluster co-chaperone

MCCD1 Gene

mitochondrial coiled-coil domain 1

MRPS36P4 Gene

mitochondrial ribosomal protein S36 pseudogene 4

MRPS36P6 Gene

mitochondrial ribosomal protein S36 pseudogene 6

MRPS36P3 Gene

mitochondrial ribosomal protein S36 pseudogene 3

MRPS36P2 Gene

mitochondrial ribosomal protein S36 pseudogene 2

LOC100289091 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2 pseudogene

PMPCAP1 Gene

peptidase (mitochondrial processing) alpha pseudogene 1

VARS2 Gene

valyl-tRNA synthetase 2, mitochondrial

This gene encodes a mitochondrial aminoacyl-tRNA synthetase, which catalyzes the attachment of valine to tRNA(Val) for mitochondrial translation. Mutations in this gene cause combined oxidative phosphorylation deficiency-20, and are also associated with early-onset mitochondrial encephalopathies. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2014]

ATP5BP1 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide pseudogene 1

SLC25A3P3 Gene

solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene

SLC25A3P1 Gene

solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene 1

MRPL11P3 Gene

mitochondrial ribosomal protein L11 pseudogene 3

MRPL11P2 Gene

mitochondrial ribosomal protein L11 pseudogene 2

MRPL45P1 Gene

mitochondrial ribosomal protein L45 pseudogene 1

MRPL45P2 Gene

mitochondrial ribosomal protein L45 pseudogene 2

LOC101929583 Gene

monofunctional C1-tetrahydrofolate synthase, mitochondrial-like

LOC100289118 Gene

mitochondrial carrier 2 pseudogene

MRPS16 Gene

mitochondrial ribosomal protein S16

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S16P family. The encoded protein is one of the most highly conserved ribosomal proteins between mammalian and yeast mitochondria. Three pseudogenes (located at 8q21.3, 20q13.32, 22q12-q13.1) for this gene have been described. [provided by RefSeq, Jul 2008]

MRPS15 Gene

mitochondrial ribosomal protein S15

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S15P family. The encoded protein is more than two times the size of its E. coli counterpart, with the 12S rRNA binding sites conserved. Between human and mouse, the encoded protein is the least conserved among small subunit ribosomal proteins. Pseudogenes corresponding to this gene are found on chromosomes 15q and 19q. [provided by RefSeq, Jul 2008]

MRPS14 Gene

mitochondrial ribosomal protein S14

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S14P family. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2010]

MRPS12 Gene

mitochondrial ribosomal protein S12

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S12P family. The encoded protein is a key component of the ribosomal small subunit and controls the decoding fidelity and susceptibility to aminoglycoside antibiotics. The gene for mitochondrial seryl-tRNA synthetase is located upstream and adjacent to this gene, and both genes are possible candidates for the autosomal dominant deafness gene (DFNA4). Splice variants that differ in the 5' UTR have been found for this gene; all three variants encode the same protein. [provided by RefSeq, Jul 2008]

MRPS11 Gene

mitochondrial ribosomal protein S11

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that contains a high level of sequence similarity with ribosomal protein S11P family members. A pseudogene corresponding to this gene is found on chromosome 20. Sequence analysis identified two transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2008]

MRPS10 Gene

mitochondrial ribosomal protein S10

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S10P family. Pseudogenes corresponding to this gene are found on chromosomes 1q, 3p, and 9p. [provided by RefSeq, Jul 2008]

SLC25A5P8 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 8

SLC25A5P9 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 9

SLC25A5P1 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 1

SLC25A5P3 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 3

LOC100128171 Gene

mitochondrial fission regulator 1 pseudogene

NMTRQ-TTG3-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 3-1

LOC100131471 Gene

presenilins-associated rhomboid-like protein, mitochondrial-like

MTIF3 Gene

mitochondrial translational initiation factor 3

This gene encodes a translation initiation factor that is involved in mitochondrial protein synthesis. Polymorphism in this gene is associated with the onset of Parkinson's disease. Alternate splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 5. [provided by RefSeq, Oct 2009]

MTIF2 Gene

mitochondrial translational initiation factor 2

During the initiation of protein biosynthesis, initiation factor-2 (IF-2) promotes the binding of the initiator tRNA to the small subunit of the ribosome in a GTP-dependent manner. Prokaryotic IF-2 is a single polypeptide, while eukaryotic cytoplasmic IF-2 (eIF-2) is a trimeric protein. Bovine liver mitochondria contain IF-2(mt), an 85-kD monomeric protein that is equivalent to prokaryotic IF-2. The predicted 727-amino acid human protein contains a 29-amino acid presequence. Human IF-2(mt) shares 32 to 38% amino acid sequence identity with yeast IF-2(mt) and several prokaryotic IF-2s, with the greatest degree of conservation in the G domains of the proteins. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]

MTPAP Gene

mitochondrial poly(A) polymerase

The protein encoded by this gene is a member of the DNA polymerase type-B-like family. This enzyme synthesizes the 3' poly(A) tail of mitochondrial transcripts and plays a role in replication-dependent histone mRNA degradation.[provided by RefSeq, Jan 2011]

HMGCS2 Gene

3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)

The protein encoded by this gene belongs to the HMG-CoA synthase family. It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. Mutations in this gene are associated with HMG-CoA synthase deficiency. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Oct 2009]

MMDFS Gene

Multiple mitochondrial dysfunctions syndrome

SLC25A14P1 Gene

solute carrier family 25 (mitochondrial carrier, brain), member 14 pseudogene 1

ACO2 Gene

aconitase 2, mitochondrial

The protein encoded by this gene belongs to the aconitase/IPM isomerase family. It is an enzyme that catalyzes the interconversion of citrate to isocitrate via cis-aconitate in the second step of the TCA cycle. This protein is encoded in the nucleus and functions in the mitochondrion. It was found to be one of the mitochondrial matrix proteins that are preferentially degraded by the serine protease 15(PRSS15), also known as Lon protease, after oxidative modification. [provided by RefSeq, Jul 2008]

MIEF1 Gene

mitochondrial elongation factor 1

MIEF2 Gene

mitochondrial elongation factor 2

This gene encodes an outer mitochondrial membrane protein that functions in the regulation of mitochondrial morphology. It can directly recruit the fission mediator dynamin-related protein 1 (Drp1) to the mitochondrial surface. The gene is located within the Smith-Magenis syndrome region on chromosome 17. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jun 2011]

MCAT Gene

malonyl CoA:ACP acyltransferase (mitochondrial)

The protein encoded by this gene is found exclusively in the mitochondrion, where it catalyzes the transfer of a malonyl group from malonyl-CoA to the mitochondrial acyl carrier protein. The encoded protein may be part of a fatty acid synthase complex that is more like the type II prokaryotic and plastid complexes rather than the type I human cytosolic complex. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2012]

MRPL42P3 Gene

mitochondrial ribosomal protein L42 pseudogene 3

MRPL42P2 Gene

mitochondrial ribosomal protein L42 pseudogene 2

NMTRQ-TTG12-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 12-1

OXSM Gene

3-oxoacyl-ACP synthase, mitochondrial

This gene encodes a beta-ketoacyl synthetase. The encoded enzyme is required for elongation of fatty acid chains in the mitochondria. Alternatively spliced transcript variants have been described.[provided by RefSeq, Feb 2009]

MRPS18A Gene

mitochondrial ribosomal protein S18A

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. A pseudogene corresponding to this gene is found on chromosome 3p. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jul 2010]

MRPS18B Gene

mitochondrial ribosomal protein S18B

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 1q and 2q. [provided by RefSeq, Jul 2008]

MRPS18C Gene

mitochondrial ribosomal protein S18C

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S18P family. The encoded protein is one of three that has significant sequence similarity to bacterial S18 proteins. The primary sequences of the three human mitochondrial S18 proteins are no more closely related to each other than they are to the prokaryotic S18 proteins. Pseudogenes corresponding to this gene are found on chromosomes 8p, 12p, 15q, and 22q. [provided by RefSeq, Jul 2008]

MRPL14P1 Gene

mitochondrial ribosomal protein L14 pseudogene 1

ATP5J2LP Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2-like pseudogene

MRPS7P2 Gene

mitochondrial ribosomal protein S7 pseudogene 2

MRPS7P1 Gene

mitochondrial ribosomal protein S7 pseudogene 1

FIS1 Gene

fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae)

The balance between fission and fusion regulates the morphology of mitochondria. TTC11 is a component of a mitochondrial complex that promotes mitochondrial fission (James et al., 2003 [PubMed 12783892]).[supplied by OMIM, Mar 2008]

LOC260339 Gene

transcription factor A, mitochondrial pseudogene

MTRF1 Gene

mitochondrial translational release factor 1

The protein encoded by this gene was determined by in silico methods to be a mitochondrial protein with similarity to the peptide chain release factors (RFs) discovered in bacteria and yeast. The peptide chain release factors direct the termination of translation in response to the peptide chain termination codons. Initially thought to have a role in the termination of mitochondria protein synthesis, a recent publication found no mitochondrial translation release functionality. Multiple alternatively spliced transcript variants have been suggested by mRNA and EST data; however, their full-length natures are not clear. [provided by RefSeq, Jul 2008]

MTFR1 Gene

mitochondrial fission regulator 1

This gene encodes a mitochondrial protein that is characterized by a poly-proline rich region. A chicken homolog of this protein promotes mitochondrial fission and the mouse homolog protects cells from oxidative stress. A related pseudogene of this gene is found on chromosome X. [provided by RefSeq, Mar 2009]

MTFR2 Gene

mitochondrial fission regulator 2

LOC100288416 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene

LOC100128454 Gene

39S ribosomal protein L32, mitochondrial pseudogene

MPV17L Gene

MPV17 mitochondrial membrane protein-like

MPV17L2 Gene

MPV17 mitochondrial membrane protein-like 2

LOC645324 Gene

GrpE-like 1, mitochondrial (E. coli) pseudogene

NMTRS-TGA2-1 Gene

nuclear-encoded mitochondrial transfer RNA-Ser (TGA) 2-1

LOC100736408 Gene

NAD kinase 2, mitochondrial pseudogene

LOC100509370 Gene

39S ribosomal protein L21, mitochondrial pseudogene

LOC101928296 Gene

ATP synthase-coupling factor 6, mitochondrial-like

TOMM40 Gene

translocase of outer mitochondrial membrane 40 homolog (yeast)

TOMM40 is the channel-forming subunit of the translocase of the mitochondrial outer membrane (TOM) complex that is essential for protein import into mitochondria (Humphries et al., 2005 [PubMed 15644312]).[supplied by OMIM, May 2008]

TFB2M Gene

transcription factor B2, mitochondrial

MGME1 Gene

mitochondrial genome maintenance exonuclease 1

MRPL51P2 Gene

mitochondrial ribosomal protein L51 pseudogene 2

MRPL51P1 Gene

mitochondrial ribosomal protein L51 pseudogene 1

TARS2 Gene

threonyl-tRNA synthetase 2, mitochondrial (putative)

This gene encodes a member of the class-II aminoacyl-tRNA synthetase family. The encoded protein is a mitochondrial aminoacyl-tRNA synthetase. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 4. [provided by RefSeq, Dec 2012]

LOC343508 Gene

aconitase 2, mitochondrial pseudogene

MRPS23P1 Gene

mitochondrial ribosomal protein S23 pseudogene 1

NMTRQ-TTG6-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 6-1

ME2P1 Gene

malic enzyme 2, NAD(+)-dependent, mitochondrial pseudogene 1

ATP5JP1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6 pseudogene 1

ATP5A1 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]

LOC105369446 Gene

mitochondrial import receptor subunit TOM20 homolog pseudogene

MRPS18AP1 Gene

mitochondrial ribosomal protein S18A pseudogene 1

MRPL39 Gene

mitochondrial ribosomal protein L39

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Two transcript variants encoding distinct isoforms have been described. A pseudogene corresponding to this gene is found on chromosome 5q. [provided by RefSeq, Jul 2008]

LOC102724738 Gene

tricarboxylate transport protein, mitochondrial pseudogene

NMTRQ-TTG13-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 13-1

MRPL43 Gene

mitochondrial ribosomal protein L43

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. This gene and the gene for a semaphorin class 4 protein (SEMA4G) overlap at map location 10q24.31 and are transcribed in opposite directions. Sequence analysis identified multiple transcript variants encoding at least four different protein isoforms. [provided by RefSeq, Jul 2008]

MRPL42 Gene

mitochondrial ribosomal protein L42

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a protein identified as belonging to both the 28S and the 39S subunits. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 4q, 6p, 6q, 7p, and 15q. [provided by RefSeq, May 2011]

MRPL40 Gene

mitochondrial ribosomal protein L40

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Deletions in this gene may contribute to the etiology of velo-cardio-facial syndrome and DiGeorge syndrome. [provided by RefSeq, Jul 2008]

MRPL47 Gene

mitochondrial ribosomal protein L47

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. This gene is immediately adjacent to the gene for BAF complex 53 kDa subunit protein a (BAF53a), in a tail-to-tail orientation. Two transcript variants encoding different protein isoforms have been identified. [provided by RefSeq, Jul 2008]

MRPL46 Gene

mitochondrial ribosomal protein L46

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

MRPL44 Gene

mitochondrial ribosomal protein L44

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

MRPL49 Gene

mitochondrial ribosomal protein L49

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. Pseudogenes corresponding to this gene are found on chromosomes 5q and 8p. [provided by RefSeq, May 2011]

MRPL48 Gene

mitochondrial ribosomal protein L48

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 6p. [provided by RefSeq, Jul 2008]

ATP5J2P6 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 6

ATP5J2P4 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 4

ATP5J2P5 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 5

ATP5J2P2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 2

ATP5J2P3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2 pseudogene 3

MPC1L Gene

mitochondrial pyruvate carrier 1-like

MRPS28 Gene

mitochondrial ribosomal protein S28

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that has been called mitochondrial ribosomal protein S35 in the literature. [provided by RefSeq, Jul 2008]

MRPS26 Gene

mitochondrial ribosomal protein S26

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. This gene lies adjacent to and downstream of the gonadotropin-releasing hormone precursor gene. [provided by RefSeq, Jul 2008]

MRPS27 Gene

mitochondrial ribosomal protein S27

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that may be a functional partner of the death associated protein 3 (DAP3). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2013]

MRPS24 Gene

mitochondrial ribosomal protein S24

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 11. Read-through transcription exists between this gene and the upstream upregulator of cell proliferation (URGCP) gene. [provided by RefSeq, Mar 2011]

MRPS25 Gene

mitochondrial ribosomal protein S25

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 4. [provided by RefSeq, Jul 2008]

MRPS22 Gene

mitochondrial ribosomal protein S22

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that does not seem to have a counterpart in prokaryotic and fungal-mitochondrial ribosomes. This gene lies telomeric of and is transcribed in the opposite direction from the forkhead box L2 gene. A pseudogene corresponding to this gene is found on chromosome Xq. [provided by RefSeq, Jul 2008]

MRPS23 Gene

mitochondrial ribosomal protein S23

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. A pseudogene corresponding to this gene is found on chromosome 7p. [provided by RefSeq, Jul 2008]

MRPS21 Gene

mitochondrial ribosomal protein S21

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that belongs to the ribosomal protein S21P family. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 9p, 10p, 10q, 16q, and 17q. Available sequence data analyses identified splice variants that differ in the 5' UTR; both transcripts encode the same protein. [provided by RefSeq, Jul 2008]

NMTRV-TAC1-1 Gene

nuclear-encoded mitochondrial transfer RNA-Val (TAC) 1-1

ATP5S Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit s (factor B)

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. This gene encodes the subunit s, also known as factor B, of the proton channel. This subunit is necessary for the energy transduction activity of the ATP synthase complexes. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]

ATP5J Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F6

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the F6 subunit of the Fo complex, required for F1 and Fo interactions. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. A pseudogene exists on chromosome Yp11.[provided by RefSeq, Jun 2010]

ATP5I Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the e subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]

ATP5H Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the d subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. In addition, three pseudogenes are located on chromosomes 9, 12 and 15. [provided by RefSeq, Jun 2010]

ATP5O Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit

The protein encoded by this gene is a component of the F-type ATPase found in the mitochondrial matrix. F-type ATPases are composed of a catalytic core and a membrane proton channel. The encoded protein appears to be part of the connector linking these two components and may be involved in transmission of conformational changes or proton conductance. [provided by RefSeq, Jul 2008]

ME3 Gene

malic enzyme 3, NADP(+)-dependent, mitochondrial

Malic enzyme catalyzes the oxidative decarboxylation of malate to pyruvate using either NAD+ or NADP+ as a cofactor. Mammalian tissues contain 3 distinct isoforms of malic enzyme: a cytosolic NADP(+)-dependent isoform, a mitochondrial NADP(+)-dependent isoform, and a mitochondrial NAD(+)-dependent isoform. This gene encodes a mitochondrial NADP(+)-dependent isoform. Multiple alternatively spliced transcript variants have been found for this gene, but the biological validity of some variants has not been determined. [provided by RefSeq, Jul 2008]

ME2 Gene

malic enzyme 2, NAD(+)-dependent, mitochondrial

This gene encodes a mitochondrial NAD-dependent malic enzyme, a homotetrameric protein, that catalyzes the oxidative decarboxylation of malate to pyruvate. It had previously been weakly linked to a syndrome known as Friedreich ataxia that has since been shown to be the result of mutation in a completely different gene. Certain single-nucleotide polymorphism haplotypes of this gene have been shown to increase the risk for idiopathic generalized epilepsy. Alternatively spliced transcript variants encoding different isoforms found for this gene. [provided by RefSeq, Dec 2009]

ATP5B Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the beta subunit of the catalytic core. [provided by RefSeq, Jul 2008]

ATP5E Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the epsilon subunit of the catalytic core. Two pseudogenes of this gene are located on chromosomes 4 and 13. Read-through transcripts that include exons from this gene are expressed from the upstream gene SLMO2.[provided by RefSeq, Mar 2011]

ATP5D Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the delta subunit of the catalytic core. Alternatively spliced transcript variants encoding the same isoform have been identified. [provided by RefSeq, Jul 2008]

CLPX Gene

caseinolytic mitochondrial matrix peptidase chaperone subunit

CLPP Gene

caseinolytic mitochondrial matrix peptidase proteolytic subunit

The protein encoded by this gene belongs to the peptidase family S14 and hydrolyzes proteins into small peptides in the presence of ATP and magnesium. The protein is transported into mitochondrial matrix and is associated with the inner mitochondrial membrane. [provided by RefSeq, Jul 2008]

CLPB Gene

ClpB homolog, mitochondrial AAA ATPase chaperonin

This gene belongs to the ATP-ases associated with diverse cellular activities (AAA+) superfamily. Members of this superfamily form ring-shaped homo-hexamers and have highly conserved ATPase domains that are involved in various processes including DNA replication, protein degradation and reactivation of misfolded proteins. All members of this family hydrolyze ATP through their AAA+ domains and use the energy generated through ATP hydrolysis to exert mechanical force on their substrates. In addition to an AAA+ domain, the protein encoded by this gene contains a C-terminal D2 domain, which is characteristic of the AAA+ subfamily of Caseinolytic peptidases to which this protein belongs. It cooperates with Hsp70 in the disaggregation of protein aggregates. Allelic variants of this gene are associated with 3-methylglutaconic aciduria, which causes cataracts and neutropenia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]

NMTRL-TAA4-1 Gene

nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 4-1

RMRP Gene

RNA component of mitochondrial RNA processing endoribonuclease

This gene encodes the RNA component of mitochondrial RNA processing endoribonuclease, which cleaves mitochondrial RNA at a priming site of mitochondrial DNA replication. This RNA also interacts with the telomerase reverse transcriptase catalytic subunit to form a distinct ribonucleoprotein complex that has RNA-dependent RNA polymerase activity and produces double-stranded RNAs that can be processed into small interfering RNA. Mutations in this gene are associated with cartilage-hair hypoplasia.[provided by RefSeq, Mar 2010]

LOC100996643 Gene

monofunctional C1-tetrahydrofolate synthase, mitochondrial-like

LOC100421472 Gene

mitochondrial fission regulator 2 pseudogene

DIABLO Gene

diablo, IAP-binding mitochondrial protein

This gene encodes an inhibitor of apoptosis protein (IAP)-binding protein. The encoded mitochondrial protein enters the cytosol when cells undergo apoptosis, and allows activation of caspases by binding to inhibitor of apoptosis proteins. Overexpression of the encoded protein sensitizes tumor cells to apoptosis. A mutation in this gene is associated with young-adult onset of nonsyndromic deafness-64. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, May 2013]

MTO1 Gene

mitochondrial tRNA translation optimization 1

This gene encodes a mitochondrial protein thought to be involved in mitochondrial tRNA modification. The encoded protein may also play a role in the expression of the non-syndromic and aminoglycoside-induced deafness phenotypes associated with a specific mutation in the mitochondrial 12S rRNA gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

NMTRL-TAA5-1 Gene

nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 5-1

LOC100132849 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit pseudogene

NMTRQ-TTG7-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 7-1

GPAM Gene

glycerol-3-phosphate acyltransferase, mitochondrial

This gene encodes a mitochondrial enzyme which prefers saturated fatty acids as its substrate for the synthesis of glycerolipids. This metabolic pathway's first step is catalyzed by the encoded enzyme. Two forms for this enzyme exist, one in the mitochondria and one in the endoplasmic reticulum. Two alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Oct 2011]

LOC102724580 Gene

monofunctional C1-tetrahydrofolate synthase, mitochondrial-like

ATP5C1P1 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1 pseudogene 1

TFAMP2 Gene

transcription factor A, mitochondrial pseudogene 2

TFAMP1 Gene

transcription factor A, mitochondrial pseudogene 1

MECR Gene

mitochondrial trans-2-enoyl-CoA reductase

LOC100507083 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene

LOC102724828 Gene

39S ribosomal protein L23, mitochondrial-like

LOC101929091 Gene

enoyl-CoA hydratase domain-containing protein 2, mitochondrial pseudogene

MTG2 Gene

mitochondrial ribosome-associated GTPase 2

Small G proteins, such as GTPBP5, act as molecular switches that play crucial roles in the regulation of fundamental cellular processes such as protein synthesis, nuclear transport, membrane trafficking, and signal transduction (Hirano et al., 2006 [PubMed 17054726]).[supplied by OMIM, Mar 2008]

MTG1 Gene

mitochondrial ribosome-associated GTPase 1

MRPS6P2 Gene

mitochondrial ribosomal protein S6 pseudogene 2

MRPS6P1 Gene

mitochondrial ribosomal protein S6 pseudogene 1

MRPS6P4 Gene

mitochondrial ribosomal protein S6 pseudogene 4

CMPK2 Gene

cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial

This gene encodes one of the enzymes in the nucleotide synthesis salvage pathway that may participate in terminal differentiation of monocytic cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

ATP5J2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit F2

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The catalytic portion of mitochondrial ATP synthase consists of five different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the f subunit of the Fo complex. Alternatively spliced transcript variants encoding different isoforms have been identified for this gene. This gene has multiple pseudogenes. Naturally occurring read-through transcription also exists between this gene and the downstream pentatricopeptide repeat domain 1 (PTCD1) gene. [provided by RefSeq, Nov 2010]

SHMT2 Gene

serine hydroxymethyltransferase 2 (mitochondrial)

This gene encodes the mitochondrial form of a pyridoxal phosphate-dependent enzyme that catalyzes the reversible reaction of serine and tetrahydrofolate to glycine and 5,10-methylene tetrahydrofolate. The encoded product is primarily responsible for glycine synthesis. The activity of the encoded protein has been suggested to be the primary source of intracellular glycine. The gene which encodes the cytosolic form of this enzyme is located on chromosome 17. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]

TARS2P1 Gene

threonyl-tRNA synthetase 2, mitochondrial pseudogene

MSTO1 Gene

misato 1, mitochondrial distribution and morphology regulator

TFAM Gene

transcription factor A, mitochondrial

This gene encodes a key mitochondrial transcription factor containing two high mobility group motifs. The encoded protein also functions in mitochondrial DNA replication and repair. Sequence polymorphisms in this gene are associated with Alzheimer's and Parkinson's diseases. There are pseudogenes for this gene on chromosomes 6, 7, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2012]

ERAL1 Gene

Era-like 12S mitochondrial rRNA chaperone 1

ALDH2 Gene

aldehyde dehydrogenase 2 family (mitochondrial)

This protein belongs to the aldehyde dehydrogenase family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. Two major liver isoforms of aldehyde dehydrogenase, cytosolic and mitochondrial, can be distinguished by their electrophoretic mobilities, kinetic properties, and subcellular localizations. Most Caucasians have two major isozymes, while approximately 50% of Orientals have the cytosolic isozyme but not the mitochondrial isozyme. A remarkably higher frequency of acute alcohol intoxication among Orientals than among Caucasians could be related to the absence of a catalytically active form of the mitochondrial isozyme. The increased exposure to acetaldehyde in individuals with the catalytically inactive form may also confer greater susceptibility to many types of cancer. This gene encodes a mitochondrial isoform, which has a low Km for acetaldehydes, and is localized in mitochondrial matrix. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Mar 2011]

LOC642355 Gene

nucleoside diphosphate kinase, mitochondrial-like

MRPS11P1 Gene

mitochondrial ribosomal protein S11 pseudogene 1

HARS2 Gene

histidyl-tRNA synthetase 2, mitochondrial

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. The protein encoded by this gene is an enzyme belonging to the class II family of aminoacyl-tRNA synthetases. Functioning in the synthesis of histidyl-transfer RNA, the enzyme plays an accessory role in the regulation of protein biosynthesis. The gene is located in a head-to-head orientation with HARS on chromosome five, where the homologous genes likely share a bidirectional promoter. Mutations in this gene are associated with the pathogenesis of Perrault syndrome, which involves ovarian dysgenesis and sensorineural hearing loss. Alternative splicing results in multiple transcript variants of this gene. [provided by RefSeq, Jul 2013]

TOMM40L Gene

translocase of outer mitochondrial membrane 40 homolog (yeast)-like

LONP1 Gene

lon peptidase 1, mitochondrial

This gene encodes a mitochondrial matrix protein that belongs to the Lon family of ATP-dependent proteases. This protein mediates the selective degradation of misfolded, unassembled or oxidatively damaged polypeptides in the mitochondrial matrix. It may also have a chaperone function in the assembly of inner membrane protein complexes, and participate in the regulation of mitochondrial gene expression and maintenance of the integrity of the mitochondrial genome. Decreased expression of this gene has been noted in a patient with hereditary spastic paraplegia (PMID:18378094). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Feb 2013]

FTMT Gene

ferritin mitochondrial

MAVS Gene

mitochondrial antiviral signaling protein

This gene encodes an intermediary protein necessary in the virus-triggered beta interferon signaling pathways. It is required for activation of transcription factors which regulate expression of beta interferon and contributes to antiviral immunity. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

TK2 Gene

thymidine kinase 2, mitochondrial

This gene encodes a deoxyribonucleoside kinase that specifically phosphorylates thymidine, deoxycytidine, and deoxyuridine. The encoded enzyme localizes to the mitochondria and is required for mitochondrial DNA synthesis. Mutations in this gene are associated with a myopathic form of mitochondrial DNA depletion syndrome. Alternate splicing results in multiple transcript variants encoding distinct isoforms, some of which lack transit peptide, so are not localized to mitochondria. [provided by RefSeq, Dec 2012]

LOC100996384 Gene

aconitate hydratase, mitochondrial pseudogene

LOC101060049 Gene

ornithine aminotransferase, mitochondrial-like

LOC133332 Gene

mitochondrial ribosomal protein S5 pseudogene

TOMM6 Gene

translocase of outer mitochondrial membrane 6 homolog (yeast)

TOMM7 Gene

translocase of outer mitochondrial membrane 7 homolog (yeast)

This gene encodes a subunit of the translocase of the outer mitochondrial membrane. The encoded protein regulates the assembly and stability of the translocase complex. [provided by RefSeq, Oct 2012]

TOMM5 Gene

translocase of outer mitochondrial membrane 5 homolog (yeast)

LOC100422685 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene

WARS2 Gene

tryptophanyl tRNA synthetase 2, mitochondrial

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

ATP5EP1 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 1

ATP5EP2 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit pseudogene 2

SLC25A22 Gene

solute carrier family 25 (mitochondrial carrier: glutamate), member 22

This gene encodes a mitochondrial glutamate carrier. Mutations in this gene are associated with early infantile epileptic encephalopathy. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Jul 2010]

SLC25A23 Gene

solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23

SLC25A21 Gene

solute carrier family 25 (mitochondrial oxoadipate carrier), member 21

SLC25A21 is a homolog of the S. cerevisiae ODC proteins, mitochondrial carriers that transport C5-C7 oxodicarboxylates across inner mitochondrial membranes. One of the species transported by ODC is 2-oxoadipate, a common intermediate in the catabolism of lysine, tryptophan, and hydroxylysine in mammals. Within mitochondria, 2-oxoadipate is converted into acetyl-CoA.[supplied by OMIM, Apr 2004]

SLC25A24 Gene

solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24

This gene encodes a carrier protein that transports ATP-Mg exchanging it for phosphate. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012]

SLC25A25 Gene

solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25

The protein encoded by this gene belongs to the family of calcium-binding mitochondrial carriers, with a characteristic mitochondrial carrier domain at the C-terminus. These proteins are found in the inner membranes of mitochondria, and function as transport proteins. They shuttle metabolites, nucleotides and cofactors through the mitochondrial membrane and thereby connect and/or regulate cytoplasm and matrix functions. This protein may function as an ATP-Mg/Pi carrier that mediates the transport of Mg-ATP in exchange for phosphate, and likely responsible for the net uptake or efflux of adenine nucleotides into or from the mitochondria. Alternatively spliced transcript variants encoding different isoforms with a common C-terminus but variable N-termini have been described for this gene. [provided by RefSeq, Jul 2012]

SLC25A28 Gene

solute carrier family 25 (mitochondrial iron transporter), member 28

SLC25A29 Gene

solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29

This gene encodes a nuclear-encoded mitochondrial protein that is a member of the large family of solute carrier family 25 (SLC25) mitochondrial transporters. The members of this superfamily are involved in numerous metabolic pathways and cell functions. This gene product was previously reported to be a mitochondrial carnitine-acylcarnitine-like (CACL) translocase (PMID:128829710) or an ornithine transporter (designated ORNT3, PMID:19287344), however, a recent study characterized the main role of this protein as a mitochondrial transporter of basic amino acids, with a preference for arginine and lysine (PMID:24652292). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2014]

MCCD1P1 Gene

mitochondrial coiled-coil domain 1 pseudogene 1

GPD2 Gene

glycerol-3-phosphate dehydrogenase 2 (mitochondrial)

The protein encoded by this gene localizes to the inner mitochondrial membrane and catalyzes the conversion of glycerol-3-phosphate to dihydroxyacetone phosphate, using FAD as a cofactor. Along with GDP1, the encoded protein constitutes the glycerol phosphate shuttle, which reoxidizes NADH formed during glycolysis. Two transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Jan 2010]

MICU3 Gene

mitochondrial calcium uptake family, member 3

MICU2 Gene

mitochondrial calcium uptake 2

MICU1 Gene

mitochondrial calcium uptake 1

This gene encodes an essential regulator of mitochondrial Ca2+ uptake under basal conditions. The encoded protein interacts with the mitochondrial calcium uniporter, a mitochondrial inner membrane Ca2+ channel, and is essential in preventing mitochondrial Ca2+ overload, which can cause excessive production of reactive oxygen species and cell stress. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Mar 2013]

ATP5G2P1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 1

ATP5G2P3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 3

ATP5G2P2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 2

ATP5G2P4 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9) pseudogene 4

NMTRS-TGA1-1 Gene

nuclear-encoded mitochondrial transfer RNA-Ser (TGA) 1-1

LOC102724023 Gene

ES1 protein homolog, mitochondrial

SLC25A15P1 Gene

solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 pseudogene 1

SLC25A15P2 Gene

solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 pseudogene 2

SLC25A15P3 Gene

solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 pseudogene 3

SLC25A15P5 Gene

solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 pseudogene 5

GRPEL2P2 Gene

GrpE-like 2, mitochondrial (E. coli) pseudogene 2

ECHS1 Gene

enoyl CoA hydratase, short chain, 1, mitochondrial

The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008]

LOC392452 Gene

mitochondrial fission factor pseudogene

ATP5HP1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 1

ATP5HP3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 3

ATP5HP2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 2

ATP5HP4 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit d, pseudogene 4

FARS2 Gene

phenylalanyl-tRNA synthetase 2, mitochondrial

Aminoacyl-tRNA synthetases are a class of enzymes that charge tRNAs with their cognate amino acids. This gene encodes a phenylalanine-tRNA synthetase (PheRS) localized to the mitochondrion which consists of a single polypeptide chain, unlike the (alpha-beta)2 structure of the prokaryotic and eukaryotic cytoplasmic forms of PheRS. Structure analysis and catalytic properties indicate mitochondrial PheRSs may constitute a class of PheRS distinct from the enzymes found in prokaryotes and in the eukaryotic cytoplasm. [provided by RefSeq, Jul 2008]

TOMM20 Gene

translocase of outer mitochondrial membrane 20 homolog (yeast)

TOMM22 Gene

translocase of outer mitochondrial membrane 22 homolog (yeast)

The protein encoded by this gene is an integral membrane protein of the mitochondrial outer membrane. The encoded protein interacts with TOMM20 and TOMM40, and forms a complex with several other proteins to import cytosolic preproteins into the mitochondrion. [provided by RefSeq, Jul 2008]

NMTRQ-TTG11-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 11-1

SLC25A6P3 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 3

MRPL37P1 Gene

mitochondrial ribosomal protein L37 pseudogene 1

DFNM2 Gene

deafness (mitochondrial) modifier 2

AARS2 Gene

alanyl-tRNA synthetase 2, mitochondrial

The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]

MRRF Gene

mitochondrial ribosome recycling factor

LOC105379443 Gene

monofunctional C1-tetrahydrofolate synthase, mitochondrial-like

MRPS33P1 Gene

mitochondrial ribosomal protein S33 pseudogene 1

MRPS33P2 Gene

mitochondrial ribosomal protein S33 pseudogene 2

MRPS33P3 Gene

mitochondrial ribosomal protein S33 pseudogene 3

MRPS33P4 Gene

mitochondrial ribosomal protein S33 pseudogene 4

GPAT2 Gene

glycerol-3-phosphate acyltransferase 2, mitochondrial

MRPL57P10 Gene

mitochondrial ribosomal protein L57 pseudogene 10

LOC100420057 Gene

aconitase 2, mitochondrial pseudogene

ATP5G3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C3 (subunit 9)

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding different proteins have been identified. [provided by RefSeq, Jun 2010]

ATP5G2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and single representatives of the gamma, delta, and epsilon subunits. The proton channel likely has nine subunits (a, b, c, d, e, f, g, F6 and 8). There are three separate genes which encode subunit c of the proton channel and they specify precursors with different import sequences but identical mature proteins. The protein encoded by this gene is one of three precursors of subunit c. Alternatively spliced transcript variants encoding different isoforms have been identified. This gene has multiple pseudogenes. [provided by RefSeq, Jun 2010]

MRPL15P1 Gene

mitochondrial ribosomal protein L15 pseudogene 1

MRPL2P1 Gene

mitochondrial ribosomal protein L2 pseudogene 1

NMTRL-TAA3-1 Gene

nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 3-1

MRPL50P2 Gene

mitochondrial ribosomal protein L50 pseudogene 2

MRPL50P3 Gene

mitochondrial ribosomal protein L50 pseudogene 3

MRPL50P1 Gene

mitochondrial ribosomal protein L50 pseudogene 1

MRPL50P4 Gene

mitochondrial ribosomal protein L50 pseudogene 4

MRPL32P1 Gene

mitochondrial ribosomal protein L32 pseudogene 1

LOC653924 Gene

glycerol-3-phosphate acyltransferase 2, mitochondrial pseudogene

MRPL24 Gene

mitochondrial ribosomal protein L24

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which is more than twice the size of its E.coli counterpart (EcoL24). Sequence analysis identified two transcript variants that encode the same protein. [provided by RefSeq, Jul 2008]

MRPL27 Gene

mitochondrial ribosomal protein L27

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

MRPL21 Gene

mitochondrial ribosomal protein L21

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Multiple transcript variants encoding different isoforms were identified through sequence analysis although some may be subject to nonsense-mediated decay (NMD). [provided by RefSeq, Jul 2008]

MRPL20 Gene

mitochondrial ribosomal protein L20

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 21q. [provided by RefSeq, Jul 2008]

MRPL23 Gene

mitochondrial ribosomal protein L23

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. The gene is biallelically expressed, despite its location within a region of imprinted genes on chromosome 11. [provided by RefSeq, Jul 2008]

MRPL22 Gene

mitochondrial ribosomal protein L22

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L22 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 4q. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

MRPL28 Gene

mitochondrial ribosomal protein L28

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein, a part of which was originally isolated by its ability to recognize tyrosinase in an HLA-A24-restricted fashion. [provided by RefSeq, Jul 2008]

LOC100288560 Gene

mitochondrial ribosomal protein S18C pseudogene

POLRMT Gene

polymerase (RNA) mitochondrial (DNA directed)

This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008]

GRPEL1 Gene

GrpE-like 1, mitochondrial (E. coli)

GRPEL2 Gene

GrpE-like 2, mitochondrial (E. coli)

NMTRQ-TTG10-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 10-1

BCAT2 Gene

branched chain amino-acid transaminase 2, mitochondrial

This gene encodes a branched chain aminotransferase found in mitochondria. The encoded protein forms a dimer that catalyzes the first step in the production of the branched chain amino acids leucine, isoleucine, and valine. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

LOC440514 Gene

citrate synthase, mitochondrial-like

TCAIM Gene

T cell activation inhibitor, mitochondrial

TSFM Gene

Ts translation elongation factor, mitochondrial

This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]

MRPS34 Gene

mitochondrial ribosomal protein S34

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

NT5M Gene

5',3'-nucleotidase, mitochondrial

This gene encodes a 5' nucleotidase that localizes to the mitochondrial matrix. This enzyme dephosphorylates the 5'- and 2'(3')-phosphates of uracil and thymine deoxyribonucleotides. The gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

XPNPEP3 Gene

X-prolyl aminopeptidase 3, mitochondrial

The protein encoded by this gene belongs to the family of X-pro-aminopeptidases that utilize a metal cofactor, and remove the N-terminal amino acid from peptides with a proline residue in the penultimate position. This protein has been shown to localize to the mitochondria of renal cells, and have a role in ciliary function. Mutations in this gene are associated with nephronophthisis-like nephropathy-1. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene, however, expression of some of these isoforms in vivo is not known.[provided by RefSeq, Mar 2011]

LOC727980 Gene

translocase of outer mitochondrial membrane 40 homolog (yeast) pseudogene

SARS2 Gene

seryl-tRNA synthetase 2, mitochondrial

This gene encodes the mitochondrial seryl-tRNA synthethase precursor, a member of the class II tRNA synthetase family. The mature enzyme catalyzes the ligation of Serine to tRNA(Ser) and participates in the biosynthesis of selenocysteinyl-tRNA(sec) in mitochondria. The enzyme contains an N-terminal tRNA binding domain and a core catalytic domain. It functions in a homodimeric form, which is stabilized by tRNA binding. This gene is regulated by a bidirectional promoter that also controls the expression of mitochondrial ribosomal protein S12. Both genes are within the critical interval for the autosomal dominant deafness locus DFNA4 and might be linked to this disease. Multiple transcript variants encoding different isoforms have been identified for this gene. [provided by RefSeq, Mar 2009]

GTPBP3 Gene

GTP binding protein 3 (mitochondrial)

This locus encodes a GTP-binding protein. The encoded protein is localized to the mitochondria and may play a role in mitochondrial tRNA modification. Polymorphisms at this locus may be associated with severity of aminoglycoside-induced deafness, a disease associated with a mutation in the 12S rRNA. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Sep 2010]

NMTRQ-TTG9-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 9-1

SLC25A1P4 Gene

solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 pseudogene 4

SLC25A1P5 Gene

solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 pseudogene 5

SLC25A1P1 Gene

solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 pseudogene 1

SLC25A1P2 Gene

solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 pseudogene 2

SLC25A1P3 Gene

solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1 pseudogene 3

MCU Gene

mitochondrial calcium uniporter

This gene encodes a calcium transporter that localizes to the mitochondrial inner membrane. The encoded protein interacts with mitochondrial calcium uptake 1. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]

LOC100129577 Gene

mitochondrial carrier 1 pseudogene

LOC642661 Gene

translocase of outer mitochondrial membrane 40 homolog (yeast) pseudogene

LOC100420620 Gene

mitochondrial calcium uniporter regulator 1 pseudogene

NMTRL-TAA6-1 Gene

nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 6-1

ATP5A1P4 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 4

ATP5A1P5 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 5

ATP5A1P7 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 7

ATP5A1P2 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 2

ATP5A1P3 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 3

ATP5A1P8 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 8

MRPS18CP2 Gene

mitochondrial ribosomal protein S18C pseudogene 2

NDUFA4 Gene

NDUFA4, mitochondrial complex associated

The protein encoded by this gene belongs to the complex I 9kDa subunit family. Mammalian complex I of mitochondrial respiratory chain is composed of 45 different subunits. This protein has NADH dehydrogenase activity and oxidoreductase activity. It transfers electrons from NADH to the respiratory chain. The immediate electron acceptor for the enzyme is believed to be ubiquinone. [provided by RefSeq, Jul 2008]

MTIF2P1 Gene

mitochondrial translational initiation factor 2 pseudogene 1

ATP5A1P10 Gene

ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1 pseudogene 10

TOMM70A Gene

translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)

This gene encodes an import receptor of the outer mitochondrial membrane that is part of the translocase of the outer membrane complex. This protein is involved in the import of mitochondrial precursor proteins. [provided by RefSeq, Oct 2011]

MCCD1P2 Gene

mitochondrial coiled-coil domain 1 pseudogene 2

MRPL36P1 Gene

mitochondrial ribosomal protein L36 pseudogene 1

MRPS15P1 Gene

mitochondrial ribosomal protein S15 pseudogene 1

MRPS15P2 Gene

mitochondrial ribosomal protein S15 pseudogene 2

MTERF2 Gene

mitochondrial transcription termination factor 2

MTERF3 Gene

mitochondrial transcription termination factor 3

MTERF1 Gene

mitochondrial transcription termination factor 1

This gene encodes a mitochondrial transcription termination factor. This protein participates in attenuating transcription from the mitochondrial genome; this attenuation allows higher levels of expression of 16S ribosomal RNA relative to the tRNA gene downstream. The product of this gene has three leucine zipper motifs bracketed by two basic domains that are all required for DNA binding. There is evidence that, for this protein, the zippers participate in intramolecular interactions that establish the three-dimensional structure required for DNA binding. [provided by RefSeq, Jul 2008]

MTERF4 Gene

mitochondrial transcription termination factor 4

TFB1M Gene

transcription factor B1, mitochondrial

The protein encoded by this gene is a dimethyltransferase that methylates the conserved stem loop of mitochondrial 12S rRNA. The encoded protein also is part of the basal mitochondrial transcription complex and is necessary for mitochondrial gene expression. The methylation and transcriptional activities of this protein are independent of one another. Variations in this gene may influence the severity of aminoglycoside-induced deafness (AID).[provided by RefSeq, Aug 2010]

LOC729999 Gene

glycerol-3-phosphate dehydrogenase 2 (mitochondrial) pseudogene

LOC100422473 Gene

translocase of outer mitochondrial membrane 40 homolog (yeast) pseudogene

ATP5F1P1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 1

ATP5F1P3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 3

ATP5F1P5 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 5

ATP5F1P4 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 4

ATP5F1P7 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 7

ATP5F1P6 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 6

LOC100129966 Gene

mitochondrial carrier 1 pseudogene

MRM1 Gene

mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)

LOC100130270 Gene

NDUFA4, mitochondrial complex associated pseudogene

MRPL53P1 Gene

mitochondrial ribosomal protein L53 pseudogene 1

NMTRP-TGG1-1 Gene

nuclear-encoded mitochondrial transfer RNA-Pro (TGG) 1-1

MRPS21P9 Gene

mitochondrial ribosomal protein S21 pseudogene 9

MRPS21P4 Gene

mitochondrial ribosomal protein S21 pseudogene 4

MRPS21P7 Gene

mitochondrial ribosomal protein S21 pseudogene 7

UCP1 Gene

uncoupling protein 1 (mitochondrial, proton carrier)

Mitochondrial uncoupling proteins (UCP) are members of the family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed only in brown adipose tissue, a specialized tissue which functions to produce heat. [provided by RefSeq, Jul 2008]

UCP3 Gene

uncoupling protein 3 (mitochondrial, proton carrier)

Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. The different UCPs have tissue-specific expression; this gene is primarily expressed in skeletal muscle. This gene's protein product is postulated to protect mitochondria against lipid-induced oxidative stress. Expression levels of this gene increase when fatty acid supplies to mitochondria exceed their oxidation capacity and the protein enables the export of fatty acids from mitochondria. UCPs contain the three solcar protein domains typically found in MACPs. Two splice variants have been found for this gene.[provided by RefSeq, Nov 2008]

MSS51 Gene

MSS51 mitochondrial translational activator

ATPAF2 Gene

ATP synthase mitochondrial F1 complex assembly factor 2

This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 alpha subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. This gene is located within the Smith-Magenis syndrome region on chromosome 17. An alternatively spliced transcript variant has been described, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]

ATPAF1 Gene

ATP synthase mitochondrial F1 complex assembly factor 1

This gene encodes an assembly factor for the F(1) component of the mitochondrial ATP synthase. This protein binds specifically to the F1 beta subunit and is thought to prevent this subunit from forming nonproductive homooligomers during enzyme assembly. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]

LARS2 Gene

leucyl-tRNA synthetase 2, mitochondrial

This gene encodes a class 1 aminoacyl-tRNA synthetase, mitochondrial leucyl-tRNA synthetase. Each of the twenty aminoacyl-tRNA synthetases catalyzes the aminoacylation of a specific tRNA or tRNA isoaccepting family with the cognate amino acid. [provided by RefSeq, Jul 2008]

ATP5LP5 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 5

ATP5LP4 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 4

ATP5LP7 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 7

ATP5LP6 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 6

ATP5LP1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 1

ATP5LP3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 3

ATP5LP2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 2

ATP5LP8 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit g, pseudogene 8

LOC729126 Gene

GrpE-like 1, mitochondrial (E. coli) pseudogene

MRPL54 Gene

mitochondrial ribosomal protein L54

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

MRPL55 Gene

mitochondrial ribosomal protein L55

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Multiple transcript variants encoding two different isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]

MRPL57 Gene

mitochondrial ribosomal protein L57

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a protein which belongs to an undetermined ribosomal subunit and which seems to be specific to animal mitoribosomes. Pseudogenes corresponding to this gene are found on chromosomes 1p, 1q, 3p, 5q, 8q, 14q, and Y. [provided by RefSeq, Jul 2008]

MRPL50 Gene

mitochondrial ribosomal protein L50

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a putative 39S subunit protein and belongs to the L47P ribosomal protein family. Pseudogenes corresponding to this gene are found on chromosomes 2p, 2q, 5p, and 10q. [provided by RefSeq, Jul 2008]

MRPL51 Gene

mitochondrial ribosomal protein L51

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 4p and 21q. [provided by RefSeq, Jul 2008]

MRPL52 Gene

mitochondrial ribosomal protein L52

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein which has no bacterial homolog. Multiple transcript variants encoding different protein isoforms were identified through sequence analysis. [provided by RefSeq, Jul 2008]

MRPL53 Gene

mitochondrial ribosomal protein L53

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 1p. [provided by RefSeq, Jul 2008]

LOC100129693 Gene

mitochondrial ribosomal protein L19 pseudogene

LOC101060206 Gene

transcription termination factor 1, mitochondrial-like

MRPS16P3 Gene

mitochondrial ribosomal protein S16 pseudogene 3

MRPS16P2 Gene

mitochondrial ribosomal protein S16 pseudogene 2

MRPS16P1 Gene

mitochondrial ribosomal protein S16 pseudogene 1

MRPL40P1 Gene

mitochondrial ribosomal protein L40 pseudogene 1

MFF Gene

mitochondrial fission factor

This is a nuclear gene encoding a protein that functions in mitochondrial and peroxisomal fission. The encoded protein recruits dynamin-1-like protein (DNM1L) to mitochondria. There are multiple pseudogenes for this gene on chromosomes 1, 5, and X. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2013]

MRPL20P1 Gene

mitochondrial ribosomal protein L20 pseudogene 1

MDH2 Gene

malate dehydrogenase 2, NAD (mitochondrial)

Malate dehydrogenase catalyzes the reversible oxidation of malate to oxaloacetate, utilizing the NAD/NADH cofactor system in the citric acid cycle. The protein encoded by this gene is localized to the mitochondria and may play pivotal roles in the malate-aspartate shuttle that operates in the metabolic coordination between cytosol and mitochondria. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]

TOMM20L Gene

translocase of outer mitochondrial membrane 20 homolog (yeast)-like

SLC25A3 Gene

solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3

The protein encoded by this gene catalyzes the transport of phosphate into the mitochondrial matrix, either by proton cotransport or in exchange for hydroxyl ions. The protein contains three related segments arranged in tandem which are related to those found in other characterized members of the mitochondrial carrier family. Both the N-terminal and C-terminal regions of this protein protrude toward the cytosol. Multiple alternatively spliced transcript variants have been isolated. [provided by RefSeq, Jul 2008]

ATP5G1P3 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 3

ATP5G1P1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 1

TMEM243 Gene

transmembrane protein 243, mitochondrial

LOC100132126 Gene

mitochondrial carrier 2 pseudogene

LOC442155 Gene

transcription factor B2, mitochondrial pseudogene

LOC101060199 Gene

acyl-coenzyme A synthetase ACSM6, mitochondrial-like

NMTRL-TAA2-1 Gene

nuclear-encoded mitochondrial transfer RNA-Leu (TAA) 2-1

LOC100131779 Gene

translocase of outer mitochondrial membrane 6 homolog (yeast) pseudogene

IDH2 Gene

isocitrate dehydrogenase 2 (NADP+), mitochondrial

Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. These enzymes belong to two distinct subclasses, one of which utilizes NAD(+) as the electron acceptor and the other NADP(+). Five isocitrate dehydrogenases have been reported: three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix, and two NADP(+)-dependent isocitrate dehydrogenases, one of which is mitochondrial and the other predominantly cytosolic. Each NADP(+)-dependent isozyme is a homodimer. The protein encoded by this gene is the NADP(+)-dependent isocitrate dehydrogenase found in the mitochondria. It plays a role in intermediary metabolism and energy production. This protein may tightly associate or interact with the pyruvate dehydrogenase complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

LOC101060442 Gene

calcium-binding mitochondrial carrier protein SCaMC-1-like

SLC25A5P5 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 5

SLC25A5P6 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 6

LOC646639 Gene

translocase of outer mitochondrial membrane 40 homolog (yeast) pseudogene

MRPL41 Gene

mitochondrial ribosomal protein L41

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the YmL27 ribosomal protein family. [provided by RefSeq, Jul 2008]

MRPL45 Gene

mitochondrial ribosomal protein L45

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 2p and 17q. [provided by RefSeq, May 2013]

ATP5F1P2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1 pseudogene 2

GLS2 Gene

glutaminase 2 (liver, mitochondrial)

The protein encoded by this gene is a mitochondrial phosphate-activated glutaminase that catalyzes the hydrolysis of glutamine to stoichiometric amounts of glutamate and ammonia. Originally thought to be liver-specific, this protein has been found in other tissues as well. Alternative splicing results in multiple transcript variants that encode different isoforms. [provided by RefSeq, Jul 2013]

LOC648934 Gene

citrate synthase, mitochondrial-like

NMTRQ-TTG1-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 1-1

NMTRQ-TTG15-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 15-1

MRPL48P1 Gene

mitochondrial ribosomal protein L48 pseudogene 1

LOC644203 Gene

glutaryl-CoA dehydrogenase, mitochondrial-like

LOC100420247 Gene

mitochondrial fission factor pseudogene

LOC100506224 Gene

translocase of outer mitochondrial membrane 5 homolog (yeast) pseudogene

SLC25A15P4 Gene

solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15 pseudogene 4

GRPEL2P1 Gene

GrpE-like 2, mitochondrial (E. coli) pseudogene 1

GRPEL2P3 Gene

GrpE-like 2, mitochondrial (E. coli) pseudogene 3

TUFM Gene

Tu translation elongation factor, mitochondrial

This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]

MTRF1L Gene

mitochondrial translational release factor 1-like

The protein encoded by this gene plays a role in mitochondrial translation termination, and is thought to be a release factor that is involved in the dissociation of the complete protein from the final tRNA, the ribosome, and the cognate mRNA. This protein acts upon UAA and UAG stop codons, but has no in vitro activity against UGA, which encodes tryptophan in human mitochondrion, or, the mitochondrial non-cognate stop codons, AGA and AGG. This protein shares sequence similarity to bacterial release factors. Pseudogenes of this gene are found on chromosomes 4, 8, and 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2014]

TUFMP1 Gene

Tu translation elongation factor, mitochondrial pseudogene 1

LOC100420951 Gene

mitochondrial ribosomal protein L18 pseudogene

LOC100420954 Gene

GrpE-like 1, mitochondrial (E. coli) pseudogene

PMPCB Gene

peptidase (mitochondrial processing) beta

This gene is a member of the peptidase M16 family and encodes a protein with a zinc-binding motif. This protein is located in the mitochondrial matrix and catalyzes the cleavage of the leader peptides of precursor proteins newly imported into the mitochondria, though it only functions as part of a heterodimeric complex. [provided by RefSeq, Jul 2008]

PMPCA Gene

peptidase (mitochondrial processing) alpha

ATP5L Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G

Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. It is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, which comprises the proton channel. The F1 complex consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled in a ratio of 3 alpha, 3 beta, and a single representative of the other 3. The Fo seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the g subunit of the Fo complex. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jun 2010]

TOP1MT Gene

topoisomerase (DNA) I, mitochondrial

This gene encodes a mitochondrial DNA topoisomerase that plays a role in the modification of DNA topology. The encoded protein is a type IB topoisomerase and catalyzes the transient breaking and rejoining of DNA to relieve tension and DNA supercoiling generated in the mitochondrial genome during replication and transcription. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012]

UCP2 Gene

uncoupling protein 2 (mitochondrial, proton carrier)

Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). UCPs separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. UCPs facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. Tissue specificity occurs for the different UCPs and the exact methods of how UCPs transfer H+/OH- are not known. UCPs contain the three homologous protein domains of MACPs. This gene is expressed in many tissues, with the greatest expression in skeletal muscle. It is thought to play a role in nonshivering thermogenesis, obesity and diabetes. Chromosomal order is 5'-UCP3-UCP2-3'. [provided by RefSeq, Jul 2008]

MALSU1 Gene

mitochondrial assembly of ribosomal large subunit 1

LOC348210 Gene

mitochondrial ribosomal protein L57 pseudogene

ATP5G1P2 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 2

ATP5G1P6 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 6

ATP5G1P7 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 7

ATP5G1P4 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 4

ATP5G1P5 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 5

ATP5G1P8 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9) pseudogene 8

NMTRQ-TTG14-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 14-1

LOC100422628 Gene

glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) pseudogene

MRPS17P9 Gene

mitochondrial ribosomal protein S17 pseudogene 9

MRPS17P6 Gene

mitochondrial ribosomal protein S17 pseudogene 6

MRPS17P7 Gene

mitochondrial ribosomal protein S17 pseudogene 7

MRPS17P5 Gene

mitochondrial ribosomal protein S17 pseudogene 5

MRPS17P3 Gene

mitochondrial ribosomal protein S17 pseudogene 3

MRPS17P1 Gene

mitochondrial ribosomal protein S17 pseudogene 1

LOC100129626 Gene

translocase of outer mitochondrial membrane 5 homolog (yeast) pseudogene

SLC25A19 Gene

solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19

This gene encodes a mitochondrial protein that is a member of the solute carrier family. Although this protein was initially thought to be the mitochondrial deoxynucleotide carrier involved in the uptake of deoxynucleotides into the matrix of the mitochondria, further studies have demonstrated that this protein instead functions as the mitochondrial thiamine pyrophosphate carrier, which transports thiamine pyrophosphates into mitochondria. Mutations in this gene cause microcephaly, Amish type, a metabolic disease that results in severe congenital microcephaly, severe 2-ketoglutaric aciduria, and death within the first year. Multiple alternatively spliced variants, encoding the same protein, have been identified for this gene. [provided by RefSeq, Jul 2008]

SLC25A17 Gene

solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17

This gene encodes a peroxisomal membrane protein that belongs to the family of mitochondrial solute carriers. It is expressed in the liver, and is likely involved in transport. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

SLC25A16 Gene

solute carrier family 25 (mitochondrial carrier), member 16

This gene encodes a protein that contains three tandemly repeated mitochondrial carrier protein domains. The encoded protein is localized in the inner membrane and facilitates the rapid transport and exchange of molecules between the cytosol and the mitochondrial matrix space. This gene has a possible role in Graves' disease. [provided by RefSeq, Jul 2008]

SLC25A15 Gene

solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15

This gene is a member of the mitochondrial carrier family. The encoded protein transports ornithine across the inner mitochondrial membrane from the cytosol to the mitochondrial matrix. The protein is an essential component of the urea cycle, and functions in ammonium detoxification and biosynthesis of the amino acid arginine. Mutations in this gene result in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome. There is a pseudogene of this locus on the Y chromosome.[provided by RefSeq, May 2009]

SLC25A14 Gene

solute carrier family 25 (mitochondrial carrier, brain), member 14

Mitochondrial uncoupling proteins (UCP) are members of the larger family of mitochondrial anion carrier proteins (MACP). Uncoupling proteins separate oxidative phosphorylation from ATP synthesis with energy dissipated as heat, also referred to as the mitochondrial proton leak. Uncoupling proteins facilitate the transfer of anions from the inner to the outer mitochondrial membrane and the return transfer of protons from the outer to the inner mitochondrial membrane. They also reduce the mitochondrial membrane potential in mammalian cells. This gene is widely expressed in many tissues with the greatest abundance in brain and testis. Alternative splicing results in multiple transcript variants. A pseudogene of this gene has been defined on chromosome 4. [provided by RefSeq, Aug 2013]

SLC25A11 Gene

solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11

The oxoglutarate/malate carrier transports 2-oxoglutarate across the inner membranes of mitochondria in an electroneutral exchange for malate or other dicarboxylic acids (summary by Iacobazzi et al., 1992 [PubMed 1457818]).[supplied by OMIM, Jan 2011]

SLC25A10 Gene

solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10

This gene encodes a member of a family of proteins that translocate small metabolites across the mitochondrial membrane. The encoded protein exchanges dicarboxylates, such as malate and succinate, for phosphate, sulfate, and other small molecules, thereby providing substrates for metabolic processes including the Krebs cycle and fatty acid synthesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]

MRPS18BP1 Gene

mitochondrial ribosomal protein S18B pseudogene 1

MRPS18BP2 Gene

mitochondrial ribosomal protein S18B pseudogene 2

LOC101928195 Gene

monofunctional C1-tetrahydrofolate synthase, mitochondrial-like

MRPL9P1 Gene

mitochondrial ribosomal protein L9 pseudogene 1

MRPS22P1 Gene

mitochondrial ribosomal protein S22 pseudogene 1

MRPL4 Gene

mitochondrial ribosomal protein L4

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified alternatively spliced variants that encode different protein isoforms. [provided by RefSeq, Jul 2008]

MRPL2 Gene

mitochondrial ribosomal protein L2

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the EcoL2 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 12q. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014]

MRPL3 Gene

mitochondrial ribosomal protein L3

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq, Jul 2008]

MRPL1 Gene

mitochondrial ribosomal protein L1

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L1 ribosomal protein family. [provided by RefSeq, Jul 2008]

MRPL9 Gene

mitochondrial ribosomal protein L9

This is a nuclear gene encoding a protein component of the 39S subunit of the mitochondrial ribosome. Alternative splicing results in multiple transcript variants. A pseudogene of this gene is found on chromosome 8. [provided by RefSeq, Jul 2014]

MRPS5P3 Gene

mitochondrial ribosomal protein S5 pseudogene 3

MRPS5P4 Gene

mitochondrial ribosomal protein S5 pseudogene 4

MUL1 Gene

mitochondrial E3 ubiquitin protein ligase 1

TOMM34 Gene

translocase of outer mitochondrial membrane 34

The protein encoded by this gene is involved in the import of precursor proteins into mitochondria. The encoded protein has a chaperone-like activity, binding the mature portion of unfolded proteins and aiding their import into mitochondria. This protein, which is found in the cytoplasm and sometimes associated with the outer mitochondrial membrane, has a weak ATPase activity and contains 6 TPR repeats. [provided by RefSeq, Jul 2008]

MIPEPP2 Gene

mitochondrial intermediate peptidase pseudogene 2

PARS2 Gene

prolyl-tRNA synthetase 2, mitochondrial (putative)

This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of proline to tRNA molecules. Mutations have been found in this gene in some patients with Alpers syndrome. [provided by RefSeq, Mar 2015]

LOC101060098 Gene

deoxyuridine 5'-triphosphate nucleotidohydrolase, mitochondrial-like

SSBP1 Gene

single-stranded DNA binding protein 1, mitochondrial

SSBP1 is a housekeeping gene involved in mitochondrial biogenesis (Tiranti et al., 1995 [PubMed 7789991]). It is also a subunit of a single-stranded DNA (ssDNA)-binding complex involved in the maintenance of genome stability (Huang et al., 2009) [PubMed 19683501].[supplied by OMIM, Feb 2010]

MTFMT Gene

mitochondrial methionyl-tRNA formyltransferase

The protein encoded by this nuclear gene localizes to the mitochondrion, where it catalyzes the formylation of methionyl-tRNA. [provided by RefSeq, Jun 2011]

LOC102724788 Gene

proline dehydrogenase 1, mitochondrial

LOC100420899 Gene

mitochondrial ribosomal protein S25 pseudogene

LOC644924 Gene

glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) pseudogene

EARS2 Gene

glutamyl-tRNA synthetase 2, mitochondrial

This gene encodes a member of the class I family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of glutamate to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2015]

RARS2 Gene

arginyl-tRNA synthetase 2, mitochondrial

The protein encoded by this gene is an arginyl-tRNA synthetase that is found in the mitochondrial matrix. Defects in this gene are a cause of pontocerebellar hypoplasia type 6 (PCH6). [provided by RefSeq, Oct 2008]

MRPL57P7 Gene

mitochondrial ribosomal protein L57 pseudogene 7

MRPL57P6 Gene

mitochondrial ribosomal protein L57 pseudogene 6

MRPL57P1 Gene

mitochondrial ribosomal protein L57 pseudogene 1

MRPL57P3 Gene

mitochondrial ribosomal protein L57 pseudogene 3

MRPL57P2 Gene

mitochondrial ribosomal protein L57 pseudogene 2

MRPL57P9 Gene

mitochondrial ribosomal protein L57 pseudogene 9

MRPL57P8 Gene

mitochondrial ribosomal protein L57 pseudogene 8

YARS2 Gene

tyrosyl-tRNA synthetase 2, mitochondrial

This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011]

LOC89844 Gene

mitochondrial RNA polymerase pseudogene

MRPL49P1 Gene

mitochondrial ribosomal protein L49 pseudogene 1

MRPL49P2 Gene

mitochondrial ribosomal protein L49 pseudogene 2

ATP5F1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit B1

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene encodes the b subunit of the proton channel. [provided by RefSeq, Jul 2008]

MTFR1L Gene

mitochondrial fission regulator 1-like

NARS2 Gene

asparaginyl-tRNA synthetase 2, mitochondrial (putative)

This gene encodes a putative member of the class II family of aminoacyl-tRNA synthetases. These enzymes play a critical role in protein biosynthesis by charging tRNAs with their cognate amino acids. This protein is encoded by the nuclear genome but is likely to be imported to the mitochondrion where it is thought to catalyze the ligation of asparagine to tRNA molecules. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 24 (COXPD24). [provided by RefSeq, Mar 2015]

MRPS25P1 Gene

mitochondrial ribosomal protein S25 pseudogene 1

LOC644762 Gene

mitochondrial fission factor pseudogene

CYB5B Gene

cytochrome b5 type B (outer mitochondrial membrane)

PCK2 Gene

phosphoenolpyruvate carboxykinase 2 (mitochondrial)

This gene encodes a mitochondrial enzyme that catalyzes the conversion of oxaloacetate to phosphoenolpyruvate in the presence of guanosine triphosphate (GTP). A cytosolic form of this protein is encoded by a different gene and is the key enzyme of gluconeogenesis in the liver. Alternatively spliced transcript variants have been described. [provided by RefSeq, Apr 2014]

MRPL36 Gene

mitochondrial ribosomal protein L36

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. A pseudogene corresponding to this gene is found on chromosome 2p. [provided by RefSeq, Jul 2008]

MRPL37 Gene

mitochondrial ribosomal protein L37

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

MRPL34 Gene

mitochondrial ribosomal protein L34

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

MRPL35 Gene

mitochondrial ribosomal protein L35

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Sequence analysis identified three transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p, 10q, and Xp. [provided by RefSeq, Jul 2008]

MRPL32 Gene

mitochondrial ribosomal protein L32

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L32 ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome Xp. [provided by RefSeq, Jul 2008]

MRPL33 Gene

mitochondrial ribosomal protein L33

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

MRPL30 Gene

mitochondrial ribosomal protein L30

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. Alternative splicing results in multiple transcript variants. Pseudogenes corresponding to this gene are found on chromosomes 6p and 12p. Read-through transcription also exists between this gene and the neighboring upstream lipoyltransferase 1 (LIPT1) gene. [provided by RefSeq, Mar 2011]

MRPL38 Gene

mitochondrial ribosomal protein L38

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein. [provided by RefSeq, Jul 2008]

METAP1D Gene

methionyl aminopeptidase type 1D (mitochondrial)

The N-terminal methionine excision pathway is an essential process in which the N-terminal methionine is removed from many proteins, thus facilitating subsequent protein modification. In mitochondria, enzymes that catalyze this reaction are celled methionine aminopeptidases (MetAps, or MAPs; EC 3.4.11.18) (Serero et al., 2003 [PubMed 14532271]).[supplied by OMIM, Mar 2008]

MRPL30P1 Gene

mitochondrial ribosomal protein L30 pseudogene 1

MRPL30P2 Gene

mitochondrial ribosomal protein L30 pseudogene 2

LOC285442 Gene

mitochondrial translational release factor 1-like pseudogene

LOC102724904 Gene

monofunctional C1-tetrahydrofolate synthase, mitochondrial-like

POLRMTP1 Gene

polymerase (RNA) mitochondrial (DNA directed) pseudogene 1

LOC100421031 Gene

carbonic anhydrase VA, mitochondrial pseudogene

MRPS35 Gene

mitochondrial ribosomal protein S35

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that has had confusing nomenclature in the literature. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. Pseudogenes corresponding to this gene are found on chromosomes 3p, 5q, and 10q. [provided by RefSeq, Jul 2010]

MRPS36 Gene

mitochondrial ribosomal protein S36

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. The mitochondrial ribosome (mitoribosome) consists of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein. Pseudogenes corresponding to this gene are found on chromosomes 3p, 4q, 8p, 11q, 12q, and 20p. [provided by RefSeq, Jul 2008]

MRPS31 Gene

mitochondrial ribosomal protein S31

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that has also been associated with type 1 diabetes; however, its relationship to the etiology of this disease remains to be clarified. Pseudogenes corresponding to this gene have been found on chromosomes 3 and 13. [provided by RefSeq, Jul 2008]

MRPS30 Gene

mitochondrial ribosomal protein S30

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 28S subunit protein that is similar to the chicken pro-apoptotic protein p52. Transcript variants using alternative promoters or polyA sites have been mentioned in the literature but the complete description of these sequences is not available. [provided by RefSeq, Jul 2008]

MRPS33 Gene

mitochondrial ribosomal protein S33

Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. The 28S subunit of the mammalian mitoribosome may play a crucial and characteristic role in translation initiation. This gene encodes a 28S subunit protein that is one of the more highly conserved mitochondrial ribosomal proteins among mammals, Drosophila and C. elegans. Splice variants that differ in the 5' UTR have been found for this gene; all variants encode the same protein. Pseudogenes corresponding to this gene are found on chromosomes 1q, 4p, 4q, and 20q [provided by RefSeq, Jul 2008]

LOC100310782 Gene

mitochondrial translational initiation factor 3 pseudogene

MRRFP1 Gene

mitochondrial ribosome recycling factor pseudogene 1

SLC25A6P2 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 2

SLC25A6P1 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6, pseudogene 1

SLC25A6P6 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 6

SLC25A6P5 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 5

SLC25A6P4 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6 pseudogene 4

LOC100287966 Gene

ATP synthase-coupling factor 6, mitochondrial-like

TAMM41 Gene

TAM41, mitochondrial translocator assembly and maintenance protein, homolog (S. cerevisiae)

MRPS18CP3 Gene

mitochondrial ribosomal protein S18C pseudogene 3

MRPS18CP5 Gene

mitochondrial ribosomal protein S18C pseudogene 5

MRPS18CP4 Gene

mitochondrial ribosomal protein S18C pseudogene 4

MRPS18CP6 Gene

mitochondrial ribosomal protein S18C pseudogene 6

MCUR1 Gene

mitochondrial calcium uniporter regulator 1

MRPS21P8 Gene

mitochondrial ribosomal protein S21 pseudogene 8

MRPS21P1 Gene

mitochondrial ribosomal protein S21 pseudogene 1

MRPS21P3 Gene

mitochondrial ribosomal protein S21 pseudogene 3

MRPS21P2 Gene

mitochondrial ribosomal protein S21 pseudogene 2

MRPS21P5 Gene

mitochondrial ribosomal protein S21 pseudogene 5

MRPS21P6 Gene

mitochondrial ribosomal protein S21 pseudogene 6

MTRF1LP1 Gene

mitochondrial translational release factor 1-like pseudogene 1

MTRF1LP2 Gene

mitochondrial translational release factor 1-like pseudogene 2

NMTRQ-CTG1-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (CTG) 1-1

SLC25A2 Gene

solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2

This intronless gene encodes a protein that localizes to the mitochondrial inner membrane and likely functions as a transporter of small molecules such as ornithine. This gene is located between the protocadherin beta and gamma gene clusters on chromosome 5. [provided by RefSeq, Dec 2014]

SLC25A1 Gene

solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1

This gene encodes a member of the mitochondrial carrier subfamily of solute carrier proteins. Members of this family include nuclear-encoded transporters that translocate small metabolites across the mitochondrial membrane. This protein regulates the movement of citrate across the inner membranes of the mitochondria. Mutations in this gene have been associated with combined D-2- and L-2-hydroxyglutaric aciduria. Pseudogenes of this gene have been identified on chromosomes 7, 11, 16, and 19. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2013]

SLC25A6 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6

This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein is implicated in the function of the permability transition pore complex (PTPC), which regulates the release of mitochondrial products that induce apoptosis. The human genome contains several non-transcribed pseudogenes of this gene. [provided by RefSeq, Jun 2013]

SLC25A5 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5

This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Suppressed expression of this gene has been shown to induce apoptosis and inhibit tumor growth. The human genome contains several non-transcribed pseudogenes of this gene.[provided by RefSeq, Jun 2013]

SLC25A4 Gene

solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4

This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. The product of this gene functions as a gated pore that translocates ADP from the cytoplasm into the mitochondrial matrix and ATP from the mitochondrial matrix into the cytoplasm. The protein forms a homodimer embedded in the inner mitochondria membrane. Mutations in this gene have been shown to result in autosomal dominant progressive external opthalmoplegia and familial hypertrophic cardiomyopathy. [provided by RefSeq, Jun 2013]

IARS2 Gene

isoleucyl-tRNA synthetase 2, mitochondrial

Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAS, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of isoleucine-tRNA synthetase exist, a cytoplasmic form and a mitochondrial form. This gene encodes the mitochondrial isoleucine-tRNA synthetase which belongs to the class-I aminoacyl-tRNA synthetase family. [provided by RefSeq, Dec 2014]

DECR1 Gene

2,4-dienoyl CoA reductase 1, mitochondrial

This gene encodes an accessory enzyme which participates in the beta-oxidation and metabolism of unsaturated fatty enoyl-CoA esters. [provided by RefSeq, Jul 2008]

LOC646828 Gene

carbonic anhydrase VA, mitochondrial pseudogene

MIPEP Gene

mitochondrial intermediate peptidase

The product of this gene performs the final step in processing a specific class of nuclear-encoded proteins targeted to the mitochondrial matrix or inner membrane. This protein is primarily involved in the maturation of oxidative phosphorylation (OXPHOS)-related proteins. This gene may contribute to the functional effects of frataxin deficiency and the clinical manifestations of Friedreich ataxia. [provided by RefSeq, Jul 2008]

MTFP1 Gene

mitochondrial fission process 1

MTP18 is a mitochondrial protein and downstream target of the phosphatidylinositol 3-kinase (see PIK3CA, MIM 171834) signaling pathway that plays a role in cell viability and mitochondrial dynamics (Tondera et al., 2004 [PubMed 15155745]).[supplied by OMIM, Mar 2008]

PDF Gene

peptide deformylase (mitochondrial)

Protein synthesis proceeds after formylation of methionine by methionyl-tRNA formyl transferase (FMT) and transfer of the charged initiator f-met tRNA to the ribosome. In eubacteria and eukaryotic organelles the product of this gene, peptide deformylase (PDF), removes the formyl group from the initiating methionine of nascent peptides. In eubacteria, deformylation of nascent peptides is required for subsequent cleavage of initiating methionines by methionine aminopeptidase. The discovery that a natural inhibitor of PDF, actinonin, acts as an antimicrobial agent in some bacteria has spurred intensive research into the design of bacterial-specific PDF inhibitors. In human cells, only mitochondrial proteins have N-formylation of initiating methionines. Protein inhibitors of PDF or siRNAs of PDF block the growth of cancer cell lines but have no effect on normal cell growth. In humans, PDF function may therefore be restricted to rapidly growing cells. [provided by RefSeq, Nov 2008]

LOC348958 Gene

mitochondrial ribosomal protein L10 pseudogene

GOT2 Gene

glutamic-oxaloacetic transaminase 2, mitochondrial

Glutamic-oxaloacetic transaminase is a pyridoxal phosphate-dependent enzyme which exists in cytoplasmic and inner-membrane mitochondrial forms, GOT1 and GOT2, respectively. GOT plays a role in amino acid metabolism and the urea and tricarboxylic acid cycles. The two enzymes are homodimeric and show close homology. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2013]

LOC100287498 Gene

NDUFA4, mitochondrial complex associated pseudogene

LOC643219 Gene

glycerol-3-phosphate acyltransferase 2, mitochondrial pseudogene

ATP5G1 Gene

ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C1 (subunit 9)

This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, utilizing an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel seems to have nine subunits (a, b, c, d, e, f, g, F6 and 8). This gene is one of three genes that encode subunit c of the proton channel. Each of the three genes have distinct mitochondrial import sequences but encode the identical mature protein. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Jul 2008]

LOC100421651 Gene

caseinolytic mitochondrial matrix peptidase chaperone subunit pseudogene

MRPS36P5 Gene

mitochondrial ribosomal protein S36 pseudogene 5

MRPS36P1 Gene

mitochondrial ribosomal protein S36 pseudogene 1

NMTRQ-TTG4-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 4-1

NMTRQ-TTG5-1 Gene

nuclear-encoded mitochondrial transfer RNA-Gln (TTG) 5-1

MRPL35P4 Gene

mitochondrial ribosomal protein L35 pseudogene 4

MRPL35P1 Gene

mitochondrial ribosomal protein L35 pseudogene 1

MRPL35P3 Gene

mitochondrial ribosomal protein L35 pseudogene 3

MRPL35P2 Gene

mitochondrial ribosomal protein L35 pseudogene 2

APOPT1 Gene

apoptogenic 1, mitochondrial

This gene encodes a protein that localizes to the mitochondria, where it stimulates the release of cytochrome c, thereby promoting programmed cell death. Mutations in this gene have been found in individuals with mitochondrial complex IV deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

DARS2 Gene

aspartyl-tRNA synthetase 2, mitochondrial

The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. It is a mitochondrial enzyme that specifically aminoacylates aspartyl-tRNA. Mutations in this gene are associated with leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL). [provided by RefSeq, Nov 2009]

CPS1 Gene

carbamoyl-phosphate synthase 1, mitochondrial

The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. This reaction is the first committed step of the urea cycle, which is important in the removal of excess urea from cells. The encoded protein may also represent a core mitochondrial nucleoid protein. Three transcript variants encoding different isoforms have been found for this gene. The shortest isoform may not be localized to the mitochondrion. Mutations in this gene have been associated with carbamoyl phosphate synthetase deficiency, susceptibility to persistent pulmonary hypertension, and susceptibility to venoocclusive disease after bone marrow transplantation.[provided by RefSeq, May 2010]

LOC100420262 Gene

mitochondrial fission factor pseudogene

mitochondrial inner membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial inner membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial inner membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mitochondrial inner membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mitochondrial inner membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the mitochondrial inner membrane cellular component from the curated GO Cellular Component Annotations dataset.

mitochondrial inner membrane Gene Set

From LOCATE Curated Protein Localization Annotations

proteins localized to the mitochondrial inner membrane cellular component in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset.

mitochondrial inner membrane peptidase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial inner membrane peptidase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial inner membrane presequence translocase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial inner membrane presequence translocase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of mitochondrial inner membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of mitochondrial inner membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of mitochondrial inner membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of mitochondrial inner membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

extrinsic component of mitochondrial inner membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the extrinsic component of mitochondrial inner membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial inner membrane peptidase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mitochondrial inner membrane peptidase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mitochondrial inner membrane presequence translocase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mitochondrial inner membrane presequence translocase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

intrinsic component of mitochondrial inner membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the intrinsic component of mitochondrial inner membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

integral component of mitochondrial inner membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the integral component of mitochondrial inner membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mitochondrial inner membrane protein insertion complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mitochondrial inner membrane protein insertion complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

protein import into mitochondrial inner membrane Gene Set

From GO Biological Process Annotations

genes participating in the protein import into mitochondrial inner membrane biological process from the curated GO Biological Process Annotations dataset.

inner mitochondrial membrane organization Gene Set

From GO Biological Process Annotations

genes participating in the inner mitochondrial membrane organization biological process from the curated GO Biological Process Annotations dataset.

mitochondrial inner membrane peptidase complex Gene Set

From GO Cellular Component Annotations

proteins localized to the mitochondrial inner membrane peptidase complex cellular component from the curated GO Cellular Component Annotations dataset.

integral component of mitochondrial inner membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of mitochondrial inner membrane cellular component from the curated GO Cellular Component Annotations dataset.

mitochondrial inner membrane presequence translocase complex Gene Set

From GO Cellular Component Annotations

proteins localized to the mitochondrial inner membrane presequence translocase complex cellular component from the curated GO Cellular Component Annotations dataset.

extrinsic component of mitochondrial inner membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the extrinsic component of mitochondrial inner membrane cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of mitochondrial inner membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of mitochondrial inner membrane cellular component from the curated GO Cellular Component Annotations dataset.

Mitochondrial import inner membrane translocase subunit Tim21 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitochondrial import inner membrane translocase subunit Tim21 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitochondrial import inner membrane translocase subunit Tim44 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitochondrial import inner membrane translocase subunit Tim44 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitochondrial import inner membrane translocase subunit Tim10/Tim12 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitochondrial import inner membrane translocase subunit Tim10/Tim12 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitochondrial inner membrane translocase complex, subunit Tim23 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitochondrial inner membrane translocase complex, subunit Tim23 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitochondrial inner membrane protease subunit 1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitochondrial inner membrane protease subunit 1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitochondrial inner membrane protein Mitofilin Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitochondrial inner membrane protein Mitofilin protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitochondrial import inner membrane translocase subunit Tim16 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitochondrial import inner membrane translocase subunit Tim16 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitochondrial import inner membrane translocase subunit Tim50 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitochondrial import inner membrane translocase subunit Tim50 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitochondrial inner membrane translocase complex, subunit Tim17 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitochondrial inner membrane translocase complex, subunit Tim17 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitochondrial inner membrane translocase subunit Tim17/Tim22/Tim23/peroxisomal protein PMP24 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitochondrial inner membrane translocase subunit Tim17/Tim22/Tim23/peroxisomal protein PMP24 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

abnormal mitochondrial inner membrane morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal mitochondrial inner membrane morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

organelle inner membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the organelle inner membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

inner acrosomal membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the inner acrosomal membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of nuclear inner membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of nuclear inner membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

photoreceptor inner segment membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the photoreceptor inner segment membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of nuclear inner membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of nuclear inner membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

nuclear inner membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the nuclear inner membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

plastid inner membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the plastid inner membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

inner acrosomal membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the inner acrosomal membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

organelle inner membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the organelle inner membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

photoreceptor inner segment membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the photoreceptor inner segment membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

chloroplast inner membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the chloroplast inner membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

inner membrane complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the inner membrane complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

nuclear inner membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the nuclear inner membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

nuclear inner membrane organization Gene Set

From GO Biological Process Annotations

genes participating in the nuclear inner membrane organization biological process from the curated GO Biological Process Annotations dataset.

organelle inner membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the organelle inner membrane cellular component from the curated GO Cellular Component Annotations dataset.

inner acrosomal membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the inner acrosomal membrane cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of nuclear inner membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of nuclear inner membrane cellular component from the curated GO Cellular Component Annotations dataset.

photoreceptor inner segment membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the photoreceptor inner segment membrane cellular component from the curated GO Cellular Component Annotations dataset.

integral component of nuclear inner membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of nuclear inner membrane cellular component from the curated GO Cellular Component Annotations dataset.

nuclear inner membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the nuclear inner membrane cellular component from the curated GO Cellular Component Annotations dataset.

Inner nuclear membrane protein MAN1 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Inner nuclear membrane protein MAN1 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

organelle inner membrane Gene Set

From LOCATE Curated Protein Localization Annotations

proteins localized to the organelle inner membrane cellular component in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset.

abnormal retina inner limiting membrane morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal retina inner limiting membrane morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1;MC5DN1 MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATPAF2 TYPE from the curated CTD Gene-Disease Associations dataset.

mitochondrial outer membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial outer membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of mitochondrial membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of mitochondrial membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of mitochondrial outer membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of mitochondrial outer membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

extrinsic component of mitochondrial outer membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the extrinsic component of mitochondrial outer membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

integral component of mitochondrial outer membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the integral component of mitochondrial outer membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial membrane part Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial membrane part cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial outer membrane translocase complex Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial outer membrane translocase complex cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

intrinsic component of mitochondrial membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the intrinsic component of mitochondrial membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the mitochondrial membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

cytoplasmic side of mitochondrial outer membrane Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the cytoplasmic side of mitochondrial outer membrane cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

mitochondrial outer membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mitochondrial outer membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

integral component of mitochondrial membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the integral component of mitochondrial membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mitochondrial membrane part Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mitochondrial membrane part cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mitochondrial outer membrane translocase complex Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mitochondrial outer membrane translocase complex cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

intrinsic component of mitochondrial membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the intrinsic component of mitochondrial membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

mitochondrial membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the mitochondrial membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

protein insertion into mitochondrial membrane Gene Set

From GO Biological Process Annotations

genes participating in the protein insertion into mitochondrial membrane biological process from the curated GO Biological Process Annotations dataset.

negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway biological process from the curated GO Biological Process Annotations dataset.

positive regulation of protein import into mitochondrial outer membrane Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of protein import into mitochondrial outer membrane biological process from the curated GO Biological Process Annotations dataset.

positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway biological process from the curated GO Biological Process Annotations dataset.

regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway biological process from the curated GO Biological Process Annotations dataset.

regulation of protein import into mitochondrial outer membrane Gene Set

From GO Biological Process Annotations

genes participating in the regulation of protein import into mitochondrial outer membrane biological process from the curated GO Biological Process Annotations dataset.

mitochondrial outer membrane permeabilization involved in programmed cell death Gene Set

From GO Biological Process Annotations

genes participating in the mitochondrial outer membrane permeabilization involved in programmed cell death biological process from the curated GO Biological Process Annotations dataset.

outer mitochondrial membrane organization Gene Set

From GO Biological Process Annotations

genes participating in the outer mitochondrial membrane organization biological process from the curated GO Biological Process Annotations dataset.

positive regulation of mitochondrial membrane permeability Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of mitochondrial membrane permeability biological process from the curated GO Biological Process Annotations dataset.

mitochondrial membrane organization Gene Set

From GO Biological Process Annotations

genes participating in the mitochondrial membrane organization biological process from the curated GO Biological Process Annotations dataset.

positive regulation of mitochondrial membrane potential Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of mitochondrial membrane potential biological process from the curated GO Biological Process Annotations dataset.

mitochondrial membrane fission Gene Set

From GO Biological Process Annotations

genes participating in the mitochondrial membrane fission biological process from the curated GO Biological Process Annotations dataset.

mitochondrial outer membrane permeabilization Gene Set

From GO Biological Process Annotations

genes participating in the mitochondrial outer membrane permeabilization biological process from the curated GO Biological Process Annotations dataset.

negative regulation of mitochondrial membrane permeability involved in apoptotic process Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of mitochondrial membrane permeability involved in apoptotic process biological process from the curated GO Biological Process Annotations dataset.

regulation of mitochondrial membrane permeability Gene Set

From GO Biological Process Annotations

genes participating in the regulation of mitochondrial membrane permeability biological process from the curated GO Biological Process Annotations dataset.

protein insertion into mitochondrial membrane involved in apoptotic signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the protein insertion into mitochondrial membrane involved in apoptotic signaling pathway biological process from the curated GO Biological Process Annotations dataset.

negative regulation of mitochondrial membrane potential Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of mitochondrial membrane potential biological process from the curated GO Biological Process Annotations dataset.

positive regulation of mitochondrial membrane permeability involved in apoptotic process Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of mitochondrial membrane permeability involved in apoptotic process biological process from the curated GO Biological Process Annotations dataset.

negative regulation of mitochondrial membrane permeability Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of mitochondrial membrane permeability biological process from the curated GO Biological Process Annotations dataset.

establishment of protein localization to mitochondrial membrane Gene Set

From GO Biological Process Annotations

genes participating in the establishment of protein localization to mitochondrial membrane biological process from the curated GO Biological Process Annotations dataset.

regulation of mitochondrial membrane permeability involved in apoptotic process Gene Set

From GO Biological Process Annotations

genes participating in the regulation of mitochondrial membrane permeability involved in apoptotic process biological process from the curated GO Biological Process Annotations dataset.

regulation of mitochondrial membrane potential Gene Set

From GO Biological Process Annotations

genes participating in the regulation of mitochondrial membrane potential biological process from the curated GO Biological Process Annotations dataset.

regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway biological process from the curated GO Biological Process Annotations dataset.

regulation of mitochondrial membrane permeability involved in programmed necrotic cell death Gene Set

From GO Biological Process Annotations

genes participating in the regulation of mitochondrial membrane permeability involved in programmed necrotic cell death biological process from the curated GO Biological Process Annotations dataset.

protein import into mitochondrial outer membrane Gene Set

From GO Biological Process Annotations

genes participating in the protein import into mitochondrial outer membrane biological process from the curated GO Biological Process Annotations dataset.

positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway biological process from the curated GO Biological Process Annotations dataset.

mitochondrial outer membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the mitochondrial outer membrane cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of mitochondrial outer membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of mitochondrial outer membrane cellular component from the curated GO Cellular Component Annotations dataset.

extrinsic component of mitochondrial outer membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the extrinsic component of mitochondrial outer membrane cellular component from the curated GO Cellular Component Annotations dataset.

integral component of mitochondrial membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of mitochondrial membrane cellular component from the curated GO Cellular Component Annotations dataset.

integral component of mitochondrial outer membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the integral component of mitochondrial outer membrane cellular component from the curated GO Cellular Component Annotations dataset.

mitochondrial membrane part Gene Set

From GO Cellular Component Annotations

proteins localized to the mitochondrial membrane part cellular component from the curated GO Cellular Component Annotations dataset.

mitochondrial outer membrane translocase complex Gene Set

From GO Cellular Component Annotations

proteins localized to the mitochondrial outer membrane translocase complex cellular component from the curated GO Cellular Component Annotations dataset.

intrinsic component of mitochondrial membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the intrinsic component of mitochondrial membrane cellular component from the curated GO Cellular Component Annotations dataset.

mitochondrial membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the mitochondrial membrane cellular component from the curated GO Cellular Component Annotations dataset.

cytoplasmic side of mitochondrial outer membrane Gene Set

From GO Cellular Component Annotations

proteins localized to the cytoplasmic side of mitochondrial outer membrane cellular component from the curated GO Cellular Component Annotations dataset.

Mitochondrial outer membrane transport complex, Sam37/metaxin Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitochondrial outer membrane transport complex, Sam37/metaxin protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitochondrial outer membrane translocase complex, subunit Tom20 domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitochondrial outer membrane translocase complex, subunit Tom20 domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitochondrial outer membrane transport complex protein, metaxin Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitochondrial outer membrane transport complex protein, metaxin protein domain from the InterPro Predicted Protein Domain Annotations dataset.

Mitochondrial outer membrane translocase complex, subunit Tom22 Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Mitochondrial outer membrane translocase complex, subunit Tom22 protein domain from the InterPro Predicted Protein Domain Annotations dataset.

mitochondrial outer membrane Gene Set

From LOCATE Curated Protein Localization Annotations

proteins localized to the mitochondrial outer membrane cellular component in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset.

mitochondrial membrane Gene Set

From LOCATE Curated Protein Localization Annotations

proteins localized to the mitochondrial membrane cellular component in low- or high-throughput protein localization assays from the LOCATE Curated Protein Localization Annotations dataset.

Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization Gene Set

From Reactome Pathways

proteins participating in the Vpr-mediated induction of apoptosis by mitochondrial outer membrane permeabilization pathway from the Reactome Pathways dataset.

nuclear outer membrane-endoplasmic reticulum membrane network Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the nuclear outer membrane-endoplasmic reticulum membrane network cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

nuclear outer membrane-endoplasmic reticulum membrane network Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the nuclear outer membrane-endoplasmic reticulum membrane network cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

plasma membrane-derived chromatophore membrane Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the plasma membrane-derived chromatophore membrane cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

chorioamnionitis; fetal membranes, premature rupture; infection of amniotic sac and membranes Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chorioamnionitis; fetal membranes, premature rupture; infection of amniotic sac and membranes in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

chorioamnionitis; fetal membranes, premature rupture; infection of amniotic sac and membranes; obstetric labor, premature; pre-eclampsia; premature birth Gene Set

From GAD Gene-Disease Associations

genes associated with the disease chorioamnionitis; fetal membranes, premature rupture; infection of amniotic sac and membranes; obstetric labor, premature; pre-eclampsia; premature birth in GWAS and other genetic association datasets from the GAD Gene-Disease Associations dataset.

fusion of virus membrane with host plasma membrane Gene Set

From GO Biological Process Annotations

genes participating in the fusion of virus membrane with host plasma membrane biological process from the curated GO Biological Process Annotations dataset.

tail-anchored membrane protein insertion into er membrane Gene Set

From GO Biological Process Annotations

genes participating in the tail-anchored membrane protein insertion into er membrane biological process from the curated GO Biological Process Annotations dataset.

membrane to membrane docking Gene Set

From GO Biological Process Annotations

genes participating in the membrane to membrane docking biological process from the curated GO Biological Process Annotations dataset.

nuclear outer membrane-endoplasmic reticulum membrane network Gene Set

From GO Cellular Component Annotations

proteins localized to the nuclear outer membrane-endoplasmic reticulum membrane network cellular component from the curated GO Cellular Component Annotations dataset.

OB inner plexiform layer Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in OB inner plexiform layer relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

Main olfactory bulb, inner plexiform layer Gene Set

From Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles

genes with high or low expression in Main olfactory bulb, inner plexiform layer relative to other tissues from the Allen Brain Atlas Adult Mouse Brain Tissue Gene Expression Profiles dataset.

inner SZ in posterior parahippocampal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner SZ in posterior parahippocampal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in rostral perirhinal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in rostral perirhinal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in orbital frontal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in orbital frontal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in inferolateral temporal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in inferolateral temporal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner portion of medial ganglionic eminence Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner portion of medial ganglionic eminence relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner SZ in medial temporal-occipital cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner SZ in medial temporal-occipital cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner SZ in dorsomedial frontal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner SZ in dorsomedial frontal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in (rostral) midinferior temporal cortex (area 36) Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in (rostral) midinferior temporal cortex (area 36) relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in lateral temporal-occipital cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in lateral temporal-occipital cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in dorsolateral prefrontal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in dorsolateral prefrontal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in midinferior temporal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in midinferior temporal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in primary visual cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in primary visual cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner SZ in posterosuperior (dorsal) parietal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner SZ in posterosuperior (dorsal) parietal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in caudal cingulate cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in caudal cingulate cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner SZ in ventrolateral prefrontal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner SZ in ventrolateral prefrontal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in granular insular cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in granular insular cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in primary auditory cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in primary auditory cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in dorsomedial frontal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in dorsomedial frontal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner SZ in inferolateral temporal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner SZ in inferolateral temporal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in caudal midinferior temporal cortex (area TF) Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in caudal midinferior temporal cortex (area TF) relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner SZ in ventromedial extrastriate cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner SZ in ventromedial extrastriate cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in posteroinferior (ventral) parietal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in posteroinferior (ventral) parietal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in posterior parahippocampal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in posterior parahippocampal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in caudal perirhinal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in caudal perirhinal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner SZ in caudal midinferior temporal cortex (area TF) Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner SZ in caudal midinferior temporal cortex (area TF) relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in ventromedial extrastriate cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in ventromedial extrastriate cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in midcingulate cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in midcingulate cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner SZ in posteroinferior (ventral) parietal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner SZ in posteroinferior (ventral) parietal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in dorsomedial parietal cortex (area 7m) Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in dorsomedial parietal cortex (area 7m) relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in midlateral extrastriate cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in midlateral extrastriate cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in primary somatosensory cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in primary somatosensory cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in posterosuperior (dorsal) parietal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in posterosuperior (dorsal) parietal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner SZ in lateral temporal-occipital cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner SZ in lateral temporal-occipital cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in ventrolateral prefrontal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in ventrolateral prefrontal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner SZ in primary somatosensory cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner SZ in primary somatosensory cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner SZ in midlateral extrastriate cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner SZ in midlateral extrastriate cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in superolateral temporal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in superolateral temporal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner SZ in dorsomedial parietal cortex (area 7m) Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner SZ in dorsomedial parietal cortex (area 7m) relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in dorsomedial extrastriate cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in dorsomedial extrastriate cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in subgenual (subcallosal) cingulate cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in subgenual (subcallosal) cingulate cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in frontal polar cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in frontal polar cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in dysgranular insular cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in dysgranular insular cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner SZ in dorsomedial extrastriate cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner SZ in dorsomedial extrastriate cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in medial temporal-occipital cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in medial temporal-occipital cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in temporal polar cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in temporal polar cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner SZ in midlateral temporal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner SZ in midlateral temporal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in posteror frontal cortex (motor cortex) Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in posteror frontal cortex (motor cortex) relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner CP in rostral cingulate cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner CP in rostral cingulate cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner SZ in frontal polar cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner SZ in frontal polar cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner SZ in dorsolateral prefrontal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner SZ in dorsolateral prefrontal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner portion of lateral ganglionic eminence Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner portion of lateral ganglionic eminence relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner SZ in orbital frontal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner SZ in orbital frontal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner SZ in superolateral temporal cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner SZ in superolateral temporal cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner SZ in primary visual cortex Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner SZ in primary visual cortex relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

inner SZ in posteror frontal cortex (motor cortex) Gene Set

From Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles

genes with high or low expression in inner SZ in posteror frontal cortex (motor cortex) relative to other tissues from the Allen Brain Atlas Prenatal Human Brain Tissue Gene Expression Profiles dataset.

Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities Gene Set

From ClinVar Gene-Phenotype Associations

genes associated with the Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

condensed chromosome inner kinetochore Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the condensed chromosome inner kinetochore cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

photoreceptor inner segment Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the photoreceptor inner segment cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

inner mucus layer Gene Set

From COMPARTMENTS Curated Protein Localization Evidence Scores

proteins localized to the inner mucus layer cellular component from the COMPARTMENTS Curated Protein Localization Evidence Scores dataset.

condensed chromosome inner kinetochore Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the condensed chromosome inner kinetochore cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

inner dynein arm Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the inner dynein arm cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

viral inner capsid Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the viral inner capsid cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

female germline ring canal inner rim Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the female germline ring canal inner rim cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

photoreceptor inner segment Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the photoreceptor inner segment cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

inner mucus layer Gene Set

From COMPARTMENTS Text-mining Protein Localization Evidence Scores

proteins co-occuring with the inner mucus layer cellular component in abstracts of biomedical publications from the COMPARTMENTS Text-mining Protein Localization Evidence Scores dataset.

Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia Gene Set

From CTD Gene-Disease Associations

genes/proteins associated with the disease Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia from the curated CTD Gene-Disease Associations dataset.

inner ear disease Gene Set

From DISEASES Experimental Gene-Disease Assocation Evidence Scores

genes associated with the disease inner ear disease in GWAS datasets from the DISEASES Experimental Gene-Disease Assocation Evidence Scores dataset.

inner ear disease Gene Set

From DISEASES Text-mining Gene-Disease Assocation Evidence Scores

genes co-occuring with the disease inner ear disease in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

inner Gene Set

From GeneRIF Biological Term Annotations

genes co-occuring with the biological term inner in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

inner ear morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the inner ear morphogenesis biological process from the curated GO Biological Process Annotations dataset.

inner ear receptor cell differentiation Gene Set

From GO Biological Process Annotations

genes participating in the inner ear receptor cell differentiation biological process from the curated GO Biological Process Annotations dataset.

inner cell mass cell differentiation Gene Set

From GO Biological Process Annotations

genes participating in the inner cell mass cell differentiation biological process from the curated GO Biological Process Annotations dataset.

positive regulation of inner ear receptor cell differentiation Gene Set

From GO Biological Process Annotations

genes participating in the positive regulation of inner ear receptor cell differentiation biological process from the curated GO Biological Process Annotations dataset.

renal inner medulla development Gene Set

From GO Biological Process Annotations

genes participating in the renal inner medulla development biological process from the curated GO Biological Process Annotations dataset.

inner cell mass cell fate commitment Gene Set

From GO Biological Process Annotations

genes participating in the inner cell mass cell fate commitment biological process from the curated GO Biological Process Annotations dataset.

inner medullary collecting duct development Gene Set

From GO Biological Process Annotations

genes participating in the inner medullary collecting duct development biological process from the curated GO Biological Process Annotations dataset.

inner cell mass cellular morphogenesis Gene Set

From GO Biological Process Annotations

genes participating in the inner cell mass cellular morphogenesis biological process from the curated GO Biological Process Annotations dataset.

inner ear receptor cell development Gene Set

From GO Biological Process Annotations

genes participating in the inner ear receptor cell development biological process from the curated GO Biological Process Annotations dataset.

regulation of inner ear receptor cell differentiation Gene Set

From GO Biological Process Annotations

genes participating in the regulation of inner ear receptor cell differentiation biological process from the curated GO Biological Process Annotations dataset.

inner ear development Gene Set

From GO Biological Process Annotations

genes participating in the inner ear development biological process from the curated GO Biological Process Annotations dataset.

inner dynein arm assembly Gene Set

From GO Biological Process Annotations

genes participating in the inner dynein arm assembly biological process from the curated GO Biological Process Annotations dataset.

negative regulation of inner ear receptor cell differentiation Gene Set

From GO Biological Process Annotations

genes participating in the negative regulation of inner ear receptor cell differentiation biological process from the curated GO Biological Process Annotations dataset.

inner ear receptor stereocilium organization Gene Set

From GO Biological Process Annotations

genes participating in the inner ear receptor stereocilium organization biological process from the curated GO Biological Process Annotations dataset.

inner cell mass cell proliferation Gene Set

From GO Biological Process Annotations

genes participating in the inner cell mass cell proliferation biological process from the curated GO Biological Process Annotations dataset.

inner ear receptor cell fate commitment Gene Set

From GO Biological Process Annotations

genes participating in the inner ear receptor cell fate commitment biological process from the curated GO Biological Process Annotations dataset.

condensed chromosome inner kinetochore Gene Set

From GO Cellular Component Annotations

proteins localized to the condensed chromosome inner kinetochore cellular component from the curated GO Cellular Component Annotations dataset.

photoreceptor inner segment Gene Set

From GO Cellular Component Annotations

proteins localized to the photoreceptor inner segment cellular component from the curated GO Cellular Component Annotations dataset.

inner mucus layer Gene Set

From GO Cellular Component Annotations

proteins localized to the inner mucus layer cellular component from the curated GO Cellular Component Annotations dataset.

inner ear disease Gene Set

From GWASdb SNP-Disease Associations

genes associated with the disease inner ear disease in GWAS and other genetic association datasets from the GWASdb SNP-Disease Associations dataset.

neoplasm of the inner ear Gene Set

From HPO Gene-Disease Associations

genes associated with the neoplasm of the inner ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

morphological abnormality of the inner ear Gene Set

From HPO Gene-Disease Associations

genes associated with the morphological abnormality of the inner ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

morphological abnormality of the vestibule of the inner ear Gene Set

From HPO Gene-Disease Associations

genes associated with the morphological abnormality of the vestibule of the inner ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

abnormality of the inner ear Gene Set

From HPO Gene-Disease Associations

genes associated with the abnormality of the inner ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

absent inner and outer dynein arms Gene Set

From HPO Gene-Disease Associations

genes associated with the absent inner and outer dynein arms phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

dilated vestibule of the inner ear Gene Set

From HPO Gene-Disease Associations

genes associated with the dilated vestibule of the inner ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

functional abnormality of the inner ear Gene Set

From HPO Gene-Disease Associations

genes associated with the functional abnormality of the inner ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia/hypoplasia of the inner ear Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia/hypoplasia of the inner ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

absent inner dynein arms Gene Set

From HPO Gene-Disease Associations

genes associated with the absent inner dynein arms phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

aplasia of the inner ear Gene Set

From HPO Gene-Disease Associations

genes associated with the aplasia of the inner ear phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Inner centromere protein, ARK-binding domain Gene Set

From InterPro Predicted Protein Domain Annotations

proteins predicted to have the Inner centromere protein, ARK-binding domain protein domain from the InterPro Predicted Protein Domain Annotations dataset.

abnormal retinal inner nuclear layer morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal retinal inner nuclear layer morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal cochlear inner hair cell number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal cochlear inner hair cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

disorganized photoreceptor inner segment Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the disorganized photoreceptor inner segment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

cochlear inner hair cell degeneration Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the cochlear inner hair cell degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short photoreceptor inner segment Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short photoreceptor inner segment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal retinal cone cell inner segment morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal retinal cone cell inner segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent hair follicle inner root sheath Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent hair follicle inner root sheath phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

inner cell mass degeneration Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the inner cell mass degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

inner ear cysts Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the inner ear cysts phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal cochlear inner hair cell physiology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal cochlear inner hair cell physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent inner cell mass proliferation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent inner cell mass proliferation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent retinal inner plexiform layer Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent retinal inner plexiform layer phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal orientation of inner hair cell stereociliary bundles Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal orientation of inner hair cell stereociliary bundles phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal inner hair cell kinocilium morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal inner hair cell kinocilium morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased inner cell mass proliferation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased inner cell mass proliferation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased cochlear inner hair cell number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the increased cochlear inner hair cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

small inner medullary pyramid Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the small inner medullary pyramid phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

delayed inner ear development Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the delayed inner ear development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal inner cell mass proliferation Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal inner cell mass proliferation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent inner hair cell stereocilia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent inner hair cell stereocilia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

photoreceptor inner segment degeneration Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the photoreceptor inner segment degeneration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent inner ear vestibule Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent inner ear vestibule phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal inner cell mass apoptosis Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal inner cell mass apoptosis phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal inner hair cell synaptic ribbon morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal inner hair cell synaptic ribbon morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent inner hair cell kinocilia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent inner hair cell kinocilia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal blood-inner ear barrier function Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal blood-inner ear barrier function phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent photoreceptor inner segment Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent photoreceptor inner segment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal inner ear canal morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal inner ear canal morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent cochlear inner hair cells Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent cochlear inner hair cells phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal inner ear canal fusion Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal inner ear canal fusion phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal inner hair cell stereociliary bundle morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal inner hair cell stereociliary bundle morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal inner ear development Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal inner ear development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

thin retinal inner nuclear layer Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the thin retinal inner nuclear layer phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal cochlear inner hair cell morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal cochlear inner hair cell morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased cochlear inner hair cell number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased cochlear inner hair cell number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

fused inner hair cell stereocilia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the fused inner hair cell stereocilia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

decreased inner hair cell stereocilia number Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the decreased inner hair cell stereocilia number phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal inner ear morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal inner ear morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

disorganized inner root sheath cells Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the disorganized inner root sheath cells phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal kidney outer medulla inner stripe morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal kidney outer medulla inner stripe morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

thin hair follicle inner rooth sheath Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the thin hair follicle inner rooth sheath phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

thin retinal inner plexiform layer Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the thin retinal inner plexiform layer phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal inner cell mass morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal inner cell mass morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal retinal rod cell inner segment morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal retinal rod cell inner segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal kidney inner medulla morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal kidney inner medulla morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent active-zone-anchored inner hair cell synaptic ribbon Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent active-zone-anchored inner hair cell synaptic ribbon phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal inner ear vestibule morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal inner ear vestibule morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal photoreceptor inner segment morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal photoreceptor inner segment morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent inner ear Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent inner ear phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

absent inner cell mass Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the absent inner cell mass phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

inner ear hypoplasia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the inner ear hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal retinal inner plexiform layer morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal retinal inner plexiform layer morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal retinal inner nuclear layer thickness Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal retinal inner nuclear layer thickness phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

short inner hair cell stereocilia Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the short inner hair cell stereocilia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

disorganized retinal inner nuclear layer Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the disorganized retinal inner nuclear layer phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

abnormal hair follicle inner root sheath morphology Gene Set

From MPO Gene-Phenotype Associations

gene mutations causing the abnormal hair follicle inner root sheath morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

increased inner cell mass apoptosis Gene Set