COQ2 Rabbit Polyclonal Antibody

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.