Aliases for CYP4V2 Gene
External Ids for CYP4V2 Gene
Previous GeneCards Identifiers for CYP4V2 Gene
This gene encodes a member of the cytochrome P450 hemethiolate protein superfamily which are involved in oxidizing various substrates in the metabolic pathway. It is implicated in the metabolism of fatty acid precursors into n-3 polyunsaturated fatty acids. Mutations in this gene result in Bietti crystalline corneoretinal dystrophy. [provided by RefSeq, Jul 2008]
GeneCards Summary for CYP4V2 Gene
CYP4V2 (Cytochrome P450, Family 4, Subfamily V, Polypeptide 2) is a Protein Coding gene. Diseases associated with CYP4V2 include bietti crystalline corneoretinal dystrophy and corneal dystrophy. Among its related pathways are Biological oxidations and Cytochrome P450 - arranged by substrate type. GO annotations related to this gene include electron carrier activity and heme binding. An important paralog of this gene is CYP4F12.
UniProtKB/Swiss-Prot for CYP4V2 Gene
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) (PubMed:19661213). Acts as a polyunsaturated omega-3 fatty acids hydroxylase by mediating oxidation of docosahexaenoate (DHA) to 22-hydroxydocosahexaenoate (PubMed:22772592). Also produces some 21-hydroxydocosahexaenoate. Also converts eicosapentaenoate (EPA) to 20-hydroxyeicosapentaenoate (20-OH-EPA) (PubMed:22772592).