rs587777220

This is a variant in the SCO1 gene that changes a glycine to an serine.

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ClinVar annotation

Pathogenic
1 submitter1 publication

Mitochondrial complex 4 deficiency, nuclear type 4

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About SCO1

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 to the yeast SCO1 gene. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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