Synonyms:CEMCOX1, ECGF1, ENTREZ:9997, Gliostatin, HGNC:10604, MC4DN2, MIM:604272, MYP6, NM_001169109, NM_001169110, NM_001169111, NM_005138, NP_001162580, NP_001162581, NP_001162582, NP_005129, PD-ECGF, SCO1L, SCO2, TP, TYMP, TdRPase, synthesis of cytochrome C oxidase 2
Omim:OMIM:604272
Id:c85e09bb-e933-5b89-95ba-70992a59094d
Hgnc:HGNC:10604
Description:synthesis of cytochrome C oxidase 2
Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014]