免疫原
Synthesized peptide derived from the Internal region of human CYP4V2.
特异性
CYP4V2 Monoclonal Antibody detects endogenous levels of CYP4V2 protein.
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
其他名称
CYP4V2; Cytochrome P450 4V2
背景
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],
功能
cofactor:Heme group.,disease:Defects in CYP4V2 are a cause of Bietti crystalline corneoretinal dystrophy (BCD) [MIM:210370]. 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.,function:Unknown. May have a role in fatty acid and steroid metabolism.,similarity:Belongs to the cytoc
