SCO2
Lua error in Module:Infobox_gene at line 33: attempt to index field 'wikibase' (a nil value). 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.[1][2][3]
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.[3]
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,[4] and a severe form of nearsightedness.
References
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Further reading
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External links
- SCO2 human gene location in the UCSC Genome Browser.
- SCO2 human gene details in the UCSC Genome Browser.