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 Member 2) is a Protein Coding gene. Diseases associated with CYP4V2 include Bietti Crystalline Corneoretinal Dystrophy and Inherited Retinal Disorder. Among its related pathways are Cytochrome P450 - arranged by substrate type and Signaling by GPCR. Gene Ontology (GO) annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP4F8.
UniProtKB/Swiss-Prot Summary for CYP4V2 Gene
A cytochrome P450 monooxygenase involved in fatty acid metabolism in the eye. Catalyzes the omega-hydroxylation of polyunsaturated fatty acids (PUFAs) docosahexaenoate (DHA) and its precursor eicosapentaenoate (EPA), and may contribute to the homeostasis of these retinal PUFAs (PubMed:22772592). Omega hydroxylates saturated fatty acids such as laurate, myristate and palmitate, the catalytic efficiency decreasing in the following order: myristate > laurate > palmitate (C14>C12>C16) (PubMed:19661213). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (CPR; NADPH-ferrihemoprotein reductase).