Cytochrome P450 4v2 (CYP4V2) Antibody – Rabbit

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]

CYP4V2: 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). May have a role in fatty acid and steroid metabolism in the eye. Defects in CYP4V2 are a cause of Bietti crystalline corneoretinal dystrophy (BCD). BCD is an autosomal recessive retinal dystrophy characterized by 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 cases have similar crystals at the corneoscleral limbus. Clinically, BCD is progressive. Patients develop decreased vision, nyctalopia, and paracentral scotomata between the 2nd and 4th decade of life. Later, patients develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the 5th or 6th decade of life. Belongs to the cytochrome P450 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Oxidoreductase; EC 1.14.13.199; Membrane protein, integral

Chromosomal Location of Human Ortholog: 4q35.2

Cellular Component: endoplasmic reticulum membrane; integral to membrane

Molecular Function: oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen; iron ion binding; heme binding; monooxygenase activity

Biological Process: visual perception; response to stimulus; fatty acid omega-oxidation

Disease: Bietti Crystalline Corneoretinal Dystrophy