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]
Function:
Thought to play a role in cellular copper homeostasis, mitochondrial redox signaling or insertion of copper into the active site of COX.
Subcellular Location:
Mitochondrion.
Tissue Specificity:
Predominantly expressed in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain.
DISEASE:
Defects in SCO1 are a cause of mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]; also known as cytochrome c oxidase deficiency. A disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to severe multisystem disease affecting several tissues and organs. Features include hypertrophic cardiomyopathy, hepatomegaly and liver dysfunction, hypotonia, muscle weakness, excercise intolerance, developmental delay, delayed motor development and mental retardation. A subset of patients manifest Leigh syndrome.
Similarity:
Belongs to the SCO1/2 family.
SWISS:
O75176
Gene ID:
603644
Database links:
Entrez Gene: 6341 Human
Entrez Gene: 52892 Mouse
Entrez Gene: 497930 Rat
Omim: 603644 Human
SwissProt: O75176 Human
SwissProt: Q5SUC9 Mouse
Unigene: 14511 Human
Unigene: 129731 Mouse
Unigene: 473182 Mouse
Unigene: 203819 Rat
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