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COQ2 is 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.
Gene Name: | coenzyme Q2 4-hydroxybenzoate polyprenyltransferase |
Synonyms: | COQ2, CL640, HCOQ2, PHB:polyprenyltransferase, COQ10D1, COQ2 homolog |
Target Sequences: | NM_015697 |
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