SCO2 gene

SCO2, cytochrome c oxidase assembly protein

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Acts as a copper chaperone, transporting copper to the Cu(A) site on the cytochrome c oxidase subunit II (COX2).

Covered on Genetics Home Reference:

From NCBI Gene:

  • Myopia 6
  • Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency

From UniProt:

Leigh syndrome (LS): An early-onset progressive neurodegenerative disorder characterized by the presence of focal, bilateral lesions in one or more areas of the central nervous system including the brainstem, thalamus, basal ganglia, cerebellum and spinal cord. Clinical features depend on which areas of the central nervous system are involved and include subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, and dysphagia. [MIM:256000]

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. [MIM:608908]

Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 (CEMCOX1): A disorder characterized by hypotonia, developmental delay, hypertrophic cardiomyopathy, lactic acidosis, gliosis, neuronal loss in basal ganglia, brainstem and spinal cord, and cytochrome c oxidase deficiency. [MIM:604377]

Cytogenetic Location: 22q13.33, which is the long (q) arm of chromosome 22 at position 13.33

Molecular Location: base pairs 50,523,568 to 50,526,439 on chromosome 22 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 22q13.33, which is the long (q) arm of chromosome 22 at position 13.33
  • CEMCOX1
  • MYP6
  • SCO1L