DISEASES

Disease-gene associations mined from literature

Literature associating CYP4V2 and Bietti crystalline corneoretinal dystrophy

CYP4V2 [ENSP00000368079]

Cytochrome P450 4V2; Omega-hydroxylase that oxidizes medium-chain saturated fatty acids and polyunsaturated omega-3 fatty acids, and which plays a role in fatty acid and steroid metabolism in the eye (PubMed:19661213, PubMed:22772592). Catalyzes the omega-hydroxylation of medium-chain saturated fatty acids such as laurate, myristate and palmitate in an NADPH-dependent pathway. The substrate specificity is higher for myristate > laurate > palmitate (C14>C16>C12) . Acts as a polyunsaturated omega-3 fatty acids hydroxylase by mediating oxidation of docosahexaenoate (DHA) to 22-hydroxydocosahexaenoate . Also produces some 21-hydroxydocosahexaenoate. Also converts eicosapentaenoate (EPA) to 20-hydroxyeicosapentaenoate (20-OH- EPA) ; Belongs to the cytochrome P450 family.

Synonyms:  CYP4V2,  CYP4V2p,  hCYP4V2,  Q6ZWL3,  Q6ZWL3p ...

Linkouts:  STRING  Pharos  UniProt  OMIM