SCO1 Antibody – Rabbit Polyclonal

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]

SCO1: Thought to play a role in cellular copper homeostasis, mitochondrial redox signaling or insertion of copper into the active site of COX. Defects in SCO1 are a cause of mitochondrial complex IV deficiency (MT-C4D); 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. Belongs to the SCO1/2 family.

Protein type: Mitochondrial

Chromosomal Location of Human Ortholog: 17p13.1

Cellular Component: mitochondrion; myofibril; mitochondrial inner membrane

Molecular Function: copper ion binding

Biological Process: generation of precursor metabolites and energy; cellular copper ion homeostasis; respiratory chain complex IV assembly; copper ion transport

Disease: Mitochondrial Complex Iv Deficiency