CYP17A1
CYP17A1 (pronounced as "S-I-P-17-A-1") is a gene that provides instructions for making an enzyme called cytochrome P450 17A1. This enzyme is involved in the production of steroids, a type of lipid that is used to make several important compounds in the body, including cortisol, aldosterone, and sex hormones.
Etymology
The term "CYP17A1" is derived from the larger family of genes known as the cytochrome P450 family. The "CYP" stands for "cytochrome P450", while "17A1" refers to the specific member of this family.
Function
The CYP17A1 enzyme is found in the adrenal glands, which are small glands located on top of each kidney. It plays a crucial role in the production of steroid hormones. Specifically, it is involved in the conversion of pregnenolone and progesterone to dehydroepiandrosterone (DHEA) and androstenedione, respectively. These are precursors to all other steroid hormones.
Clinical significance
Mutations in the CYP17A1 gene can lead to congenital adrenal hyperplasia (CAH), a group of disorders that affect the adrenal glands' ability to produce certain hormones. In severe cases, these disorders can lead to life-threatening health problems, such as salt-wasting crisis.
Related terms
- Cytochrome P450: A large family of enzymes that play a role in the body's metabolism of drugs and other substances.
- Steroids: A type of lipid that is used to make several important compounds in the body.
- Congenital adrenal hyperplasia: A group of disorders that affect the adrenal glands' ability to produce certain hormones.
External links
- Medical encyclopedia article on CYP17A1
- Wikipedia's article - CYP17A1
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