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SCO2 SCO2, cytochrome c oxidase assembly protein

Also known as: MYP6; SCO1L; CEMCOX1

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]

Genomic context

Location:
22q13.33
Sequence:
Chromosome: 22; NC_000022.11 (50523568..50526439, complement)
Total number of exons:
4

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