Gene: SCO1
Alternate names for this Gene: MC4DN4|SCOD1
Gene Summary: 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.
Gene is located in Chromosome: 17
Location in Chromosome : 17p13.1
Description of this Gene: synthesis of cytochrome C oxidase 1
Type of Gene: protein-coding
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.