DISEASES

Disease-gene associations mined from literature

Literature associating COQ2 and cerebellar ataxia

COQ2 [ENSP00000310873]

4-hydroxybenzoate polyprenyltransferase, mitochondrial; Catalyzes the prenylation of para-hydroxybenzoate (PHB) with an all-trans polyprenyl group. Mediates the second step in the final reaction sequence of coenzyme Q (CoQ) biosynthesis, which is the condensation of the polyisoprenoid side chain with PHB, generating the first membrane-bound Q intermediate.

Synonyms:  COQ2,  COQ2p,  hCOQ2,  E2QRG7,  E7EPM7 ...

Linkouts:  STRING  Pharos  UniProt  OMIM