|http://ghr.nlm.nih.gov/ A service of the U.S. National Library of Medicine®|
Enzymes produced from the cytochrome P450 genes are involved in the formation (synthesis) and breakdown (metabolism) of various molecules and chemicals within cells. Cytochrome P450 enzymes play a role in the synthesis of many molecules including steroid hormones, certain fats (cholesterol and other fatty acids), and acids used to digest fats (bile acids). Additional cytochrome P450 enzymes metabolize external substances, such as medications that are ingested, and internal substances, such as toxins that are formed within cells. There are approximately 60 CYP genes in humans.
Cytochrome P450 enzymes are primarily found in liver cells but are also located in cells throughout the body. Within cells, cytochrome P450 enzymes are located in a structure involved in protein processing and transport (endoplasmic reticulum) and the energy-producing centers of cells (mitochondria). The enzymes found in mitochondria are generally involved in the synthesis and metabolism of internal substances, while enzymes in the endoplasmic reticulum usually metabolize external substances, primarily medications and environmental pollutants.
Common variations (polymorphisms) in cytochrome P450 genes can affect the function of the enzymes. The effects of polymorphisms are most prominently seen in the breakdown of medications. Depending on the gene and the polymorphism, drugs can be metabolized quickly or slowly. If a cytochrome P450 enzyme metabolizes a drug slowly, the drug stays active longer and less is needed to get the desired effect. A drug that is quickly metabolized is broken down sooner and a higher dose might be needed to be effective. Cytochrome P450 enzymes account for 70 percent to 80 percent of enzymes involved in drug metabolism.
Each cytochrome P450 gene is named with CYP, indicating that it is part of the cytochrome P450 gene family. The gene is also given a number associated with a specific group within the gene family, a letter representing the gene's subfamily, and a number assigned to the specific gene within the subfamily. For example, the cytochrome P450 gene that is in group 27, subfamily A, gene 1 is written as CYP27A1.
Diseases caused by mutations in cytochrome P450 genes typically involve the buildup of substances in the body that are harmful in large amounts or that prevent other necessary molecules from being produced.
The HUGO Gene Nomenclature Committee (HGNC) provides a list of genes in the CYP family (http://www.genenames.org/genefamily/cyp.php).
Genetics Home Reference summarizes the normal function and health implications of these members of the CYP gene family: CYP1B1, CYP4V2, CYP11B1, CYP11B2, CYP21A2, and CYP27A1.
Genetics Home Reference includes these conditions related to genes in the CYP gene family:
You may find the following resources about the CYP gene family helpful.
acids ; bile ; cholesterol ; cytochrome P450 ; endoplasmic reticulum ; enzyme ; fatty acids ; gene ; metabolism ; mitochondria ; pharmacogenetics ; polymorphism ; protein ; synthesis
You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).
These sources were used to develop the Genetics Home Reference summary for the CYP gene family.
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.