SCO2

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]

Full Name

SCO2, Cytochrome C Oxidase Assembly Protein

Function

Copper metallochaperone essential for the synthesis and maturation of cytochrome c oxidase subunit II (MT-CO2/COX2). Involved in transporting copper to the Cu(A) site on MT-CO2/COX2 (PubMed:15229189, PubMed:17189203).
Also acts as a thiol-disulfide oxidoreductase to regulate the redox state of the cysteines in SCO1 during maturation of MT-CO2/COX2 (PubMed:19336478).

Biological Process

Biological Process cellular copper ion homeostasisIEA:InterPro
Biological Process eye developmentManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process in utero embryonic developmentIEA:Ensembl
Biological Process mitochondrial cytochrome c oxidase assemblyManual Assertion Based On ExperimentIMP:UniProtKB
Biological Process muscle system processIEA:Ensembl
Biological Process respiratory electron transport chainIEA:Ensembl
Biological Process response to activityIEA:Ensembl

Cellular Location

Mitochondrion inner membrane

Involvement in disease

Mitochondrial complex IV deficiency, nuclear type 2 (MC4DN2):
An autosomal recessive, severe mitochondrial disorder characterized by hypotonia, global developmental delay, hypertrophic cardiomyopathy, lactic acidosis, gliosis, and neuronal loss in basal ganglia, brainstem and spinal cord. Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure.
Myopia 6 (MYP6):
A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far.

Topology

Mitochondrial matrix: 42-60
Helical: 61-78
Mitochondrial intermembrane: 79-266