abnormal mitochondrial physiology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any functional anomaly of the cellular organelles responsible for energy production (Mammalian Phenotype Ontology, MP_0006036)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006036
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Genes

98 gene mutations causing the abnormal mitochondrial physiology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCB10 ATP-binding cassette, sub-family B (MDR/TAP), member 10
ABCB6 ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)
AFG3L2 AFG3-like AAA ATPase 2
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
AK1 adenylate kinase 1
APAF1 apoptotic peptidase activating factor 1
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BID BH3 interacting domain death agonist
BIRC5 baculoviral IAP repeat containing 5
C1QBP complement component 1, q subcomponent binding protein
CASP9 caspase 9, apoptosis-related cysteine peptidase
CAV1 caveolin 1, caveolae protein, 22kDa
CD47 CD47 molecule
CHDH choline dehydrogenase
CISD1 CDGSH iron sulfur domain 1
CISD2 CDGSH iron sulfur domain 2
COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
COQ7 coenzyme Q7 homolog, ubiquinone (yeast)
COQ9 coenzyme Q9
COX1
COX17 COX17 cytochrome c oxidase copper chaperone
DNAJC15 DnaJ (Hsp40) homolog, subfamily C, member 15
DNM1L dynamin 1-like
EGLN2 egl-9 family hypoxia-inducible factor 2
ESRRG estrogen-related receptor gamma
FBXL5 F-box and leucine-rich repeat protein 5
FTH1 ferritin, heavy polypeptide 1
GAMT guanidinoacetate N-methyltransferase
GPX1 glutathione peroxidase 1
GPX4 glutathione peroxidase 4
HPRT1 hypoxanthine phosphoribosyltransferase 1
HSPB2 heat shock 27kDa protein 2
HSPD1 heat shock 60kDa protein 1 (chaperonin)
IMMP2L IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
LBR lamin B receptor
LCLAT1 lysocardiolipin acyltransferase 1
LEP leptin
LEPR leptin receptor
MED30 mediator complex subunit 30
MFN1 mitofusin 1
MFN2 mitofusin 2
MIR378A microRNA 378a
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MTERF2 mitochondrial transcription termination factor 2
MTFR1 mitochondrial fission regulator 1
MTM1 myotubularin 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)
NOA1 nitric oxide associated 1
NOS1 nitric oxide synthase 1 (neuronal)
OPA1 optic atrophy 1 (autosomal dominant)
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
OTC ornithine carbamoyltransferase
PARK2 parkin RBR E3 ubiquitin protein ligase
PARK7 parkinson protein 7
PARL presenilin associated, rhomboid-like
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PDX1 pancreatic and duodenal homeobox 1
PINK1 PTEN induced putative kinase 1
PNP purine nucleoside phosphorylase
PNPLA8 patatin-like phospholipase domain containing 8
PNPT1 polyribonucleotide nucleotidyltransferase 1
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta
PPIF peptidylprolyl isomerase F
PTCD2 pentatricopeptide repeat domain 2
RNASEH1 ribonuclease H1
SCO2 SCO2 cytochrome c oxidase assembly protein
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SLC25A23 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SNPH syntaphilin
SOD2 superoxide dismutase 2, mitochondrial
SQSTM1 sequestosome 1
SUCLA2 succinate-CoA ligase, ADP-forming, beta subunit
SURF1 surfeit 1
TFAM transcription factor A, mitochondrial
TFB1M transcription factor B1, mitochondrial
TGM2 transglutaminase 2
THBS1 thrombospondin 1
THEM5 thioesterase superfamily member 5
THRA thyroid hormone receptor, alpha
TK2 thymidine kinase 2, mitochondrial
TMEM27 transmembrane protein 27
TOP1MT topoisomerase (DNA) I, mitochondrial
TP63 tumor protein p63
TYK2 tyrosine kinase 2
UCP1 uncoupling protein 1 (mitochondrial, proton carrier)
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
UCP3 uncoupling protein 3 (mitochondrial, proton carrier)
UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
VCP valosin containing protein
VDAC3 voltage-dependent anion channel 3