disease:Defects in SCO1 are a cause of cytochrome c oxidase deficiency (COX deficiency) [MIM:220110]. COX deficiency is a clinically heterogeneous disorder. The clinical features are ranging from isolated myopathy to severe multisystem disease, with onset from infancy to adulthood.,function:Thought to play a role in cellular copper homeostasis, mitochondrial redox signaling or insertion of copper into the active site of COX.,similarity:Belongs to the SCO1/2 family.,subunit:Homodimer.,tissue specificity:Predominantly expressed in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain.,
Mitochondrion . Mitochondrion inner membrane ; Single-pass membrane protein .
Predominantly expressed in tissues characterized by high rates of oxidative phosphorylation (OxPhos), including muscle, heart, and brain.
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