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Official Full Name: cytochrome c oxidase assembly factor 6
Also known as: C1orf31; CEMCOX4; MC4DN13
This gene encodes a member of the cytochrome c oxidase subunit 6B family. The encoded protein associates with cytochrome c oxidase may act has an cytochrome c oxidase mitochondrial respiratory complex VI assembly factor. Mutations in this gene may be associated with fatal infantile cardiomyopathy. Alternate splicing results in multiple transcript variants.