DISEASES

Disease-gene associations mined from literature

Literature associating CYP4V2 and choroideremia

CYP4V2 [ENSP00000368079]

Cytochrome P450, family 4, subfamily V, polypeptide 2; 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. 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,  Q49AA5,  Q6ZWL3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM