Protein Name | coenzyme Q2, polyprenyltransferase |
---|---|
Organism | Homo sapiens |
Gene ID | 27235 |
Gene Symbol | COQ2 |
UniProt | - |
Relationships |
Total Number of functionally related compound(s) :
38
Total Number of Articles : 48 |
Description |
coenzyme Q2, polyprenyltransferase |
Gene 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] |
synonyms |
|
Properties | |