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The official name of this gene is “cytochrome P450, family 4, subfamily V, polypeptide 2.”
CYP4V2 is the gene's official symbol. The CYP4V2 gene is also known by other names, listed below.
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.
The CYP4V2 gene belongs to a family of genes called CYP (cytochrome P450).
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.
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.
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.
Cytogenetic Location: 4q35.2
Molecular Location on chromosome 4: base pairs 186,191,410 to 186,213,462
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 186,191,410 to base pair 186,213,462 on chromosome 4.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
blood clotting ; 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 (http://www.ghr.nlm.nih.gov/glossary).
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? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.