Gene Symbol | COQ2 |
Entrez Gene ID | 27235 |
Full Name | coenzyme Q2, polyprenyltransferase |
Synonyms | CL640,COQ10D1,MSA1,PHB:PPT |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Coenzyme Q10 deficiency, primary, 1, 607426 (3); {Multiple system atrophy, susceptibility to}, 146500 (3) |