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 asembly 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. [provided by RefSeq, Dec 2009]
Function:
Acts as a copper chaperone, transporting copper to the Cu(A) site on the cytochrome c oxidase subunit II (COX2).
Subcellular Location:
Mitochondrion.
Tissue Specificity:
Ubiquitous.
DISEASE:
Defects in SCO2 are the cause of fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC) [MIM:604377]. This disease is characterized by hypertrophic cardiomyopathy, lactic acidosis, and gliosis. Heart and skeletal muscle show reductions in cytochrome c oxidase (COX) activity, whereas liver and fibroblasts show mild COX deficiencies.
Similarity:
Belongs to the SCO1/2 family.
Contains 1 thioredoxin domain.
SWISS:
O43819
Gene ID:
9997
Database links:
Entrez Gene: 9997 Human
Omim: 604272 Human
SwissProt: O43819 Human
Unigene: 36903 Human
Unigene: 592212 Human
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