abnormal respiratory electron transport chain Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the process in which a series of electron carriers operate together to transfer electrons from donors such as NADH and FADH2 to any of several different terminal electron acceptors to generate a transmembrane electrochemical gradient (Mammalian Phenotype Ontology, MP_0010955)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010955
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Genes

52 gene mutations causing the abnormal respiratory electron transport chain phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
AFG3L2 AFG3-like AAA ATPase 2
AIFM1 apoptosis-inducing factor, mitochondrion-associated, 1
APAF1 apoptotic peptidase activating factor 1
C1QBP complement component 1, q subcomponent binding protein
CASP9 caspase 9, apoptosis-related cysteine peptidase
CAV1 caveolin 1, caveolae protein, 22kDa
CHDH choline dehydrogenase
CISD1 CDGSH iron sulfur domain 1
CISD2 CDGSH iron sulfur domain 2
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
ESRRG estrogen-related receptor gamma
GAMT guanidinoacetate N-methyltransferase
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
LCLAT1 lysocardiolipin acyltransferase 1
LEP leptin
LEPR leptin receptor
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)
NOA1 nitric oxide associated 1
PDSS2 prenyl (decaprenyl) diphosphate synthase, subunit 2
PINK1 PTEN induced putative kinase 1
POLG polymerase (DNA directed), gamma
POLG2 polymerase (DNA directed), gamma 2, accessory subunit
PTCD2 pentatricopeptide repeat domain 2
RNASEH1 ribonuclease H1
SCO2 SCO2 cytochrome c oxidase assembly protein
SDHD succinate dehydrogenase complex, subunit D, integral membrane protein
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
UCP3 uncoupling protein 3 (mitochondrial, proton carrier)
UQCRFS1 ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1
VDAC3 voltage-dependent anion channel 3