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. The 21-hydroxylase enzyme plays a crucial role in producing hormones known as glucocorticoids and mineralocorticoids.
Etymology
The term "Cyp21a2" is derived from the Cytochrome P450 family of enzymes, with "21" indicating the specific enzyme type, and "a2" denoting the specific gene variant.
Function
The 21-hydroxylase enzyme produced by the Cyp21a2 gene is involved in the final steps of producing glucocorticoids and mineralocorticoids. Glucocorticoids, such as cortisol, help the body respond to stress and regulate the use of sugars, fats, and proteins. Mineralocorticoids, such as aldosterone, maintain the body's balance of salt and water to control blood pressure.
Related Terms
- Cytochrome P450: A large family of enzymes that play a significant role in drug metabolism and synthesis of cholesterol, steroids, and other lipids.
- 21-hydroxylase: An enzyme involved in the production of glucocorticoids and mineralocorticoids.
- Cortisol: A hormone that helps the body respond to stress.
- Aldosterone: A hormone that maintains the body's balance of salt and water.
See Also
- Congenital Adrenal Hyperplasia: A group of inherited conditions that are caused by mutations in genes like Cyp21a2, which can affect the production of hormones by the adrenal glands.
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