COX17 cytochrome c oxidase assembly homolog pseudogene (COX17P)

The COX17 cytochrome c oxidase assembly homolog pseudogene (ENSG00000250213) is a non-protein-coding genomic sequence similar to the functional COX17 gene, which encodes a mitochondrial copper chaperone essential for cytochrome c oxidase assembly. The pseudogene is located on human chromosome 13 and contains several mutations, including in the putative copper binding domain, that render it non-functional. While the protein-coding COX17 gene is ubiquitously expressed and participates in mitochondrial copper homeostasis and electron transport chain function, the pseudogene itself has no known biological activity or relevance as a therapeutic target. Confusion between this pseudogene and the functional gene may occur, but only the latter has verified biological roles, potential disease relevance, and drug-response associations.

Other names

COX17PCOX17 pseudogenecytochrome c oxidase copper chaperone pseudogene