abnormal cellular respiration Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the enzymatic release of energy from organic compounds (especially carbohydrates and fats) which either requires oxygen (aerobic respiration) or does not (anaerobic respiration) (Mammalian Phenotype Ontology, MP_0010954)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010954
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Genes

92 gene mutations causing the abnormal cellular respiration phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACACB acetyl-CoA carboxylase beta
ACADVL acyl-CoA dehydrogenase, very long chain
ACSS1 acyl-CoA synthetase short-chain family member 1
AFG3L2 AFG3-like AAA ATPase 2
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AK1 adenylate kinase 1
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
APAF1 apoptotic peptidase activating factor 1
BCO2 beta-carotene oxygenase 2
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C1QBP complement component 1, q subcomponent binding protein
C5AR2 complement component 5a receptor 2
CASP9 caspase 9, apoptosis-related cysteine peptidase
CAT catalase
CAV1 caveolin 1, caveolae protein, 22kDa
CERS6 ceramide synthase 6
CHDH choline dehydrogenase
CISD1 CDGSH iron sulfur domain 1
CISD2 CDGSH iron sulfur domain 2
CKM creatine kinase, muscle
CLPP caseinolytic mitochondrial matrix peptidase proteolytic subunit
COQ7 coenzyme Q7 homolog, ubiquinone (yeast)
COQ9 coenzyme Q9
COX1
COX17 COX17 cytochrome c oxidase copper chaperone
COX7A1 cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)
CTF1 cardiotrophin 1
CYCS cytochrome c, somatic
DNAJC15 DnaJ (Hsp40) homolog, subfamily C, member 15
DNM1L dynamin 1-like
DUSP1 dual specificity phosphatase 1
ESRRG estrogen-related receptor gamma
GAMT guanidinoacetate N-methyltransferase
HBA1 hemoglobin, alpha 1
HSPB2 heat shock 27kDa protein 2
HSPB8 heat shock 22kDa protein 8
HSPD1 heat shock 60kDa protein 1 (chaperonin)
IL2 interleukin 2
IMMP2L IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
LCLAT1 lysocardiolipin acyltransferase 1
LEP leptin
LEPR leptin receptor
MT-ND2 MTND2
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MTERF2 mitochondrial transcription termination factor 2
MTFR1 mitochondrial fission regulator 1
MUT methylmalonyl CoA mutase
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NLN neurolysin (metallopeptidase M3 family)
NOA1 nitric oxide associated 1
PARK7 parkinson protein 7
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PDX1 pancreatic and duodenal homeobox 1
PINK1 PTEN induced putative kinase 1
PLEC plectin
PNPLA8 patatin-like phospholipase domain containing 8
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PRKCDBP protein kinase C, delta binding protein
PTCD2 pentatricopeptide repeat domain 2
PTPMT1 protein tyrosine phosphatase, mitochondrial 1
RNASEH1 ribonuclease H1
SAT1 spermidine/spermine N1-acetyltransferase 1
SCO2 SCO2 cytochrome c oxidase assembly protein
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SIRT1 sirtuin 1
SIRT3 sirtuin 3
SLC25A12 solute carrier family 25 (aspartate/glutamate carrier), member 12
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SOD2 superoxide dismutase 2, mitochondrial
SQSTM1 sequestosome 1
SURF1 surfeit 1
TFAM transcription factor A, mitochondrial
TFB1M transcription factor B1, mitochondrial
TGM2 transglutaminase 2
THEM5 thioesterase superfamily member 5
THRA thyroid hormone receptor, alpha
TK2 thymidine kinase 2, mitochondrial
TMEM27 transmembrane protein 27
TOP1MT topoisomerase (DNA) I, mitochondrial
TXN2 thioredoxin 2
TXNIP thioredoxin interacting protein
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
UCP3 uncoupling protein 3 (mitochondrial, proton carrier)
UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
VDAC3 voltage-dependent anion channel 3