COQ2, Official Symbol COQ2provided by HGNC Official Full Name coenzyme Q2, polyprenyltransferaseprovided by HGNC Primary source HGNC:HGNC:25223 See related Ensembl:ENSG00000173085 MIM:609825; AllianceGenome:HGNC:25223 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as MSA1; CL640; COQ10D1; 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 See more Orthologs mouse all