Gene Symbol | SCO2 |
Entrez Gene ID | 9997 |
Full Name | SCO2, cytochrome c oxidase assembly protein |
Synonyms | CEMCOX1,MYP6,SCO1L |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3); Myopia 6, 608908 (3) |