COQ2 Rabbit Polyclonal Antibody, 100ul PCR Series Mutations in this gene have

Mutations in this gene have been associated with autosomal dominant deafness

Increased expression of this gene has been correlated with malignant progression of prostate tumors

Belongs to the extended synaptotagmin family

Aminopeptidase P is a hydrolase specific for N-terminal imido bonds

Transcript variants encoding

COQ2 Rabbit Polyclonal Antibody, 100ul PCR Series Mutations in this gene haveThis 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