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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed November 2012

What is the official name of the CYP4V2 gene?

The official name of this gene is “cytochrome P450 family 4 subfamily V member 2.”

CYP4V2 is the gene's official symbol. The CYP4V2 gene is also known by other names, listed below.

What is the normal function of the CYP4V2 gene?

The CYP4V2 gene provides instructions for making a member of the cytochrome P450 family of enzymes. These enzymes are involved in the formation and breakdown of various molecules and chemicals within cells. The CYP4V2 enzyme is involved in a multi-step process called fatty acid oxidation in which fats are broken down and converted into energy, but the enzyme's specific function is not well understood.

Does the CYP4V2 gene share characteristics with other genes?

The CYP4V2 gene belongs to a family of genes called CYP (cytochrome P450s).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? ( in the Handbook.

How are changes in the CYP4V2 gene related to health conditions?

Bietti crystalline dystrophy - caused by mutations in the CYP4V2 gene

At least 42 CYP4V2 gene mutations have been identified in people with Bietti crystalline dystrophy, a disorder in which numerous small, yellow or white crystal-like deposits of fatty (lipid) compounds accumulate in the light-sensitive tissue that lines the back of the eye (the retina). The deposits damage the retina, resulting in progressive vision loss.

CYP4V2 gene mutations that cause Bietti crystalline dystrophy are predicted to change the structure of the CYP4V2 enzyme in a way that reduces or eliminates its activity. The mutations likely affect lipid breakdown; however, it is unknown how they lead to the specific signs and symptoms of Bietti crystalline dystrophy. For unknown reasons, the severity of the signs and symptoms differs significantly among individuals with the same CYP4V2 gene mutation.

other disorders - increased risk from variations of the CYP4V2 gene

Certain common variations (polymorphisms) in the CYP4V2 gene have been associated with an increased risk of a type of blood clot called a deep venous thrombosis (DVT). DVTs occur most often in the deep veins of the legs or arms. If these clots travel through the bloodstream, they can lodge in the lungs and cause a life-threatening complication called a pulmonary embolism. While nearby genes on chromosome 4 are known to be involved in blood clotting, it is unclear how the CYP4V2 gene variations may affect this process.

Where is the CYP4V2 gene located?

Cytogenetic Location: 4q35.2

Molecular Location on chromosome 4: base pairs 186,191,411 to 186,213,463

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The CYP4V2 gene is located on the long (q) arm of chromosome 4 at position 35.2.

The CYP4V2 gene is located on the long (q) arm of chromosome 4 at position 35.2.

More precisely, the CYP4V2 gene is located from base pair 186,191,411 to base pair 186,213,463 on chromosome 4.

See How do geneticists indicate the location of a gene? ( in the Handbook.

Where can I find additional information about CYP4V2?

You and your healthcare professional may find the following resources about CYP4V2 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CYP4V2 gene or gene products?

  • BCD
  • CYP4AH1
  • cytochrome P450 4V2
  • cytochrome P450, family 4, subfamily V, polypeptide 2

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding CYP4V2?

blood clotting ; breakdown ; chromosome ; clotting ; complication ; cytochrome P450 ; embolism ; enzyme ; gene ; lipid ; lipid breakdown ; mutation ; oxidation ; pulmonary ; pulmonary embolism ; retina ; thrombosis ; tissue ; veins

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.


  • 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. 2008 Mar 19;299(11):1306-14. doi: 10.1001/jama.299.11.1306. (
  • Li A, Jiao X, Munier FL, Schorderet DF, Yao W, Iwata F, Hayakawa M, Kanai A, Shy Chen M, Alan Lewis R, Heckenlively J, Weleber RG, Traboulsi EI, Zhang Q, Xiao X, Kaiser-Kupfer M, Sergeev YV, Hejtmancik JF. Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2. Am J Hum Genet. 2004 May;74(5):817-26. Epub 2004 Mar 23. (
  • Mamatha G, Umashankar V, Kasinathan N, Krishnan T, Sathyabaarathi R, Karthiyayini T, Amali J, Rao C, Madhavan J. Molecular screening of the CYP4V2 gene in Bietti crystalline dystrophy that is associated with choroidal neovascularization. Mol Vis. 2011;17:1970-7. Epub 2011 Jul 20. (
  • Nakano M, Kelly EJ, Rettie AE. Expression and characterization of CYP4V2 as a fatty acid omega-hydroxylase. Drug Metab Dispos. 2009 Nov;37(11):2119-22. doi: 10.1124/dmd.109.028530. Epub 2009 Aug 6. (
  • 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. 2012 Oct;82(4):679-86. Epub 2012 Jul 6. (
  • NCBI Gene (
  • Rossi S, Testa F, Li A, Iorio VD, Zhang J, Gesualdo C, Corte MD, Chan CC, Fielding Hejtmancik J, Simonelli F. An atypical form of Bietti crystalline dystrophy. Ophthalmic Genet. 2011 Jun;32(2):118-21. doi: 10.3109/13816810.2011.559653. Epub 2011 Mar 8. (
  • Xiao X, Mai G, Li S, Guo X, Zhang Q. Identification of CYP4V2 mutation in 21 families and overview of mutation spectrum in Bietti crystalline corneoretinal dystrophy. Biochem Biophys Res Commun. 2011 Jun 3;409(2):181-6. doi: 10.1016/j.bbrc.2011.04.112. Epub 2011 May 1. (


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? ( in the Handbook.

Reviewed: November 2012
Published: February 1, 2016