Species Human Entrez 9997 | Human Mouse Ensembl ENSG00000130489 | |
Aliases SCO2, CEMCOX1, MYP6, SCO1L, SCO2 cytochrome c oxidase assembly protein External IDs MGI: 3818630 HomoloGene: 68444 GeneCards: SCO2 | ||
SCO2 cytochrome c oxidase assembly (also known as SCO2 homolog, mitochondrial and SCO cytochrome oxidase deficient homolog 2) is a protein that in humans is encoded by the SCO2 gene.
Function
Mammalian cytochrome c oxidase (COX) catalyzes the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. In yeast, 2 related COX assembly genes, SCO1 and SCO2 (synthesis of cytochrome c oxidase), enable subunits 1 and 2 to be incorporated into the holoprotein. This gene is the human homolog of the yeast SCO2 gene.
Mutations in this gene that alter the regulation of copper and oxygen levels are associated with a severe COX deficiency in striated muscle, an early onset fatal cardiac encephalomyopathy, and a severe form of nearsightedness.