CYP21A2
CYP21A2 (pronounced as "sip twenty-one A two") is a gene that provides instructions for making an enzyme called 21-hydroxylase. This enzyme is found in the adrenal glands, which are located on top of the kidneys.
Etymology
The term "CYP21A2" is derived from the Cytochrome P450 family of enzymes, with "21" indicating the specific enzyme 21-hydroxylase, and "A2" denoting the specific gene that encodes this enzyme.
Function
The 21-hydroxylase enzyme is involved in the production of cortisol and aldosterone, two important hormones that help regulate the body's response to stress, maintain blood pressure, and regulate the body's use of proteins, carbohydrates, and fats.
Related Terms
- Cytochrome P450: A large family of enzymes that play a significant role in drug metabolism and redox reactions.
- Cortisol: A steroid hormone that regulates a wide range of processes throughout the body, including metabolism and the immune response.
- Aldosterone: A hormone that regulates salt and water in the body, thus controlling blood pressure.
Genetic Mutations
Mutations in the CYP21A2 gene can lead to conditions such as Congenital Adrenal Hyperplasia (CAH), a group of inherited conditions that affect the adrenal glands. These mutations reduce or eliminate the function of 21-hydroxylase, disrupting the normal balance of hormones in the body.
See Also
References
- National Library of Medicine (US). Genetics Home Reference [Internet]. Bethesda (MD): The Library; 2020 Apr 7. CYP21A2; [reviewed 2018 Jan; cited 2020 Apr 7]. Available from: https://ghr.nlm.nih.gov/gene/CYP21A2
External links
- Medical encyclopedia article on CYP21A2
- Wikipedia's article - CYP21A2
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