Javascript is not enabled on this browser. This site will not work properly without Javascript.
PhosphoSitePlus Homepage Cell Signaling Technology
Home | Login
About PhosphoSiteUsing PhosphoSiteprivacy & cookiesCuration ProcessContact
logos LINCs Logo Mt Sinai Logo NIH Logo NCI Logo
Search / Browse Functions
Protein Page:

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. Note: This description may include information from UniProtKB.
Protein type: EC; Membrane protein, integral; Oxidoreductase
Chromosomal Location of Human Ortholog: 4q35.1-q35.2
Cellular Component: endoplasmic reticulum membrane; integral component of membrane
Molecular Function: heme binding; iron ion binding; monooxygenase activity; oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen
Biological Process: fatty acid omega-oxidation; response to stimulus; retinoid metabolic process; sterol metabolic process; visual perception
Disease: Bietti Crystalline Corneoretinal Dystrophy
Reference #:  Q6ZWL3 (UniProtKB)
Alt. Names/Synonyms: BCD; CP4V2; CYP4AH1; CYP4V2; Cytochrome P450 4V2; cytochrome P450, family 4, subfamily V, polypeptide 2; FLJ18432; MGC43534
Gene Symbols: CYP4V2
Molecular weight: 60,724 Da
Basal Isoelectric point: 7.19  Predict pI for various phosphorylation states
Select Structure to View Below


Protein Structure Not Found.

STRING  |  cBioPortal  |  Wikipedia  |  neXtProt  |  Protein Atlas  |  BioGPS  |  Scansite  |  Pfam  |  ENZYME  |  Phospho.ELM  |  NetworKIN  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene