SCO Cytochrome Oxidase Deficient Homolog 2 (SCO2) Human Recombinant Protein

Cytochrome c oxidase (COX) catalyzes the transfer of electrons from cytochrome c to molecular oxygen, which helps to maintain the proton gradient across the inner mitochondrial membrane that is necessary for aerobic ATP production. Human COX is a multimeric protein complex that requires several assembly factors; this gene encodes one of the COX assembly factors. The encoded protein is a metallochaperone that is involved in the biogenesis of cytochrome c oxidase subunit II. Mutations in this gene are associated with fatal infantile encephalocardiomyopathy and myopia 6. [provided by RefSeq, Oct 2014]

SCO2: Acts as a copper chaperone, transporting copper to the Cu(A) site on the cytochrome c oxidase subunit II (COX2). Defects in SCO2 are the cause of fatal infantile cardioencephalomyopathy with cytochrome c oxidase deficiency (FIC). This disease is characterized by hypertrophic cardiomyopathy, lactic acidosis, and gliosis. Heart and skeletal muscle show reductions in cytochrome c oxidase (COX) activity, whereas liver and fibroblasts show mild COX deficiencies. Belongs to the SCO1/2 family.

Protein type: Mitochondrial

Chromosomal Location of Human Ortholog: 22q13.33

Cellular Component: nucleoplasm; myofibril; mitochondrion; mitochondrial inner membrane

Molecular Function: copper ion binding

Biological Process: cellular copper ion homeostasis; eye development; in utero embryonic development; respiratory chain complex IV assembly; response to activity; copper ion transport; muscle system process

Disease: Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 1; Myopia 6