Aliases for SCO2 Gene
External Ids for SCO2 Gene
Previous HGNC Symbols for SCO2 Gene
Previous GeneCards Identifiers for SCO2 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]
GeneCards Summary for SCO2 Gene
SCO2 (SCO2, Cytochrome C Oxidase Assembly Protein) is a Protein Coding gene. Diseases associated with SCO2 include Cardioencephalomyopathy, Fatal Infantile, Due To Cytochrome C Oxidase Deficiency 1 and Myopia 6. Among its related pathways are Copper homeostasis and Gene Expression. GO annotations related to this gene include copper ion binding. An important paralog of this gene is ENSG00000284194.
UniProtKB/Swiss-Prot for SCO2 Gene
Acts as a copper chaperone, transporting copper to the Cu(A) site on the cytochrome c oxidase subunit II (COX2).