CYP4V2

CYP4V2 (Cytochrome P450 Family 4 Subfamily V Member 2) is a Protein Coding gene. Diseases associated with CYP4V2 include Bietti Crystalline Corneoretinal Dystrophy and Telangiectatic Osteogenic Sarcoma. Among its related pathways are Metabolism and Cytochrome P450 - arranged by substrate type. 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 CYP4F2.

Cytochrome P450 Family 4 Subfamily V Member 2

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).

Fatty acid omega-oxidation Source: UniProtKB
Response to stimulus Source: UniProtKB-KW
Retinoid metabolic process Source: Reactome
Sterol metabolic process Source: Reactome
Visual perception Source: UniProtKB-KW

Endoplasmic reticulum membrane

Bietti crystalline corneoretinal dystrophy (BCD):
An autosomal recessive ocular disease characterized by retinal degeneration and marginal corneal dystrophy. Typical features include multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. Most patients have similar crystals at the corneoscleral limbus. Patients develop decreased vision, nyctalopia, and paracentral scotomata between the 2nd and 4th decade of life. Later, they develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the 5th or 6th decade of life.

Helical: 13-33