Variant: rs104894630 

    present in Gene: SCO1
    present in Chromosome: 17
    Position on Chromosome: 10692805
    Alleles of this Variant: G/A

rs104894630 in SCO1 gene and Cytochrome-c Oxidase Deficiency PMID 17189203 2007 The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.

PMID 17182746 2007 Human Sco1 functional studies and pathological implications of the P174L mutant.

PMID 19336478 2009 Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.

PMID 11013136 2000 Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.