abnormal oxidative phosphorylation Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly in the process of phosphorylation of ADP to ATP that accompanies the oxidation of a metabolite through the operation of the respiratory chain; oxidation of compounds establishes a proton gradient across the membrane, providing the energy for ATP synthesis (Mammalian Phenotype Ontology, MP_0010959)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010959
Similar Terms
Downloads & Tools

Genes

27 gene mutations causing the abnormal oxidative phosphorylation phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
BIRC5 baculoviral IAP repeat containing 5
CISD1 CDGSH iron sulfur domain 1
COQ9 coenzyme Q9
COX1
COX17 COX17 cytochrome c oxidase copper chaperone
DNAJC15 DnaJ (Hsp40) homolog, subfamily C, member 15
DNM1L dynamin 1-like
GAMT guanidinoacetate N-methyltransferase
HSPD1 heat shock 60kDa protein 1 (chaperonin)
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1
LCLAT1 lysocardiolipin acyltransferase 1
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MTERF2 mitochondrial transcription termination factor 2
MTFR1 mitochondrial fission regulator 1
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (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
PTCD2 pentatricopeptide repeat domain 2
SCO2 SCO2 cytochrome c oxidase assembly protein
TFAM transcription factor A, mitochondrial
TGM2 transglutaminase 2
THRA thyroid hormone receptor, alpha
TK2 thymidine kinase 2, mitochondrial
UCP3 uncoupling protein 3 (mitochondrial, proton carrier)