Full name: coenzyme Q2, polyprenyltransferase

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: CL640; COQ10D1; MSA1; PHB:PPT

Summary: This gene encodes an enzyme that functions in the final steps in the biosynthesis of CoQ (ubiquinone), a redox carrier in the mitochondrial respiratory chain and a lipid-soluble antioxidant. This enzyme, which is part of the coenzyme Q10 pathway, catalyzes the prenylation of parahydroxybenzoate with an all-trans polyprenyl group. Mutations in this gene cause coenzyme Q10 deficiency, a mitochondrial encephalomyopathy, and also COQ2 nephropathy, an inherited form of mitochondriopathy with primary renal involvement. [provided by RefSeq, Oct 2009]

Expression: Ubiquitous expression in adrenal (RPKM 2.9), colon (RPKM 2.1) and 25 other tissues

Gene size: 21311bp

Exon count: 7