GeneID: 184


Common Name: CYP4V2 Type: Gene
Chromosome: 4 (NC_000004.12) Locus: NG_007965.1 (CYP4V2)
HUGO Symbol: CYP4V2 Full Name: cytochrome P450 family 4 subfamily V member 2
Exons: 11 Introns: 10

CYP4V2 is a member of the cytochrome P450 (CYP450) superfamily of heme-thiolate proteins that catalyze the oxidation of various endogenous and xenobiotic substrates in the metabolic pathway. The CYP4 proteins are primarily involved in fatty acid metabolism, and possess ω-hydroxylation activity. The CYP4V2 enzyme shows preference for saturated, medium-chain fatty acids and exhibits ω-hydroxylase specificity towards myristic acid and palmitic acid. It is expressed in various tissues, but is most abundant in the retina. Mutations in this gene cause Bietti crystalline corneoretinal dystrophy, a retinal degenerative disease. A polymorphism in this gene associated with increased risk of venous thrombosis in HbH patients. Although the encoded protein is not known to be related to thrombosis, the aforementioned SNP was found by others to associate with the expression level of genes involved in coagulation.

Synonyms: BCD , CYP4AH1


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Publications / Origin

  1. Danielson PB, The cytochrome P450 superfamily: biochemistry, evolution and drug metabolism in humans., Curr. Drug Metab. , 3(6), 561-97, 2002 PubMed
  2. Bezemer ID, Bare LA, Doggen CJ, Arellano AR, Tong C, Rowland CM, Catanese J, Young BA, Reitsma PH, Devlin JJ, Rosendaal FR, Gene variants associated with deep vein thrombosis., JAMA , 299(11), 1306-14, 2008 PubMed
  3. Nakano M, Kelly EJ, Rettie AE, Expression and characterization of CYP4V2 as a fatty acid omega-hydroxylase., Drug Metab. Dispos. , 37(11), 2119-22, 2009 PubMed
  4. Austin H, De Staercke C, Lally C, Bezemer ID, Rosendaal FR, Hooper WC, New gene variants associated with venous thrombosis: a replication study in White and Black Americans., J. Thromb. Haemost. , 9(3), 489-95, 2011 PubMed
  5. Nakano M, Kelly EJ, Wiek C, Hanenberg H, Rettie AE, CYP4V2 in Bietti's crystalline dystrophy: ocular localization, metabolism of ω-3-polyunsaturated fatty acids, and functional deficit of the p.H331P variant., Mol. Pharmacol. , 82(4), 679-86, 2012 PubMed
  6. Sun NA, Cheng P, Deng DH, Liu RR, Lai YR, Analysis of the genetic variants associated with recurrent thromboembolism in a patient with hemoglobin H disease following splenectomy: A case report., Biomed Rep , 5(1), 23-26, 2016 PubMed
Created on 2016-10-06 10:06:12, Last reviewed on (Show full history)

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