17α-Hydroxylase
17α-Hydroxylase is an enzyme that plays a crucial role in the human body. It is involved in the production of glucocorticoids, which are hormones that regulate a variety of essential bodily functions.
Function[edit | edit source]
17α-Hydroxylase is part of the cytochrome P450 family of enzymes. It is primarily located in the adrenal gland and the gonads, where it catalyzes the 17α-hydroxylation of pregnenolone and progesterone. This reaction is a key step in the biosynthesis of glucocorticoids, including cortisol and corticosterone.
In addition to its role in glucocorticoid production, 17α-Hydroxylase is also involved in the synthesis of sex steroids. It converts pregnenolone and progesterone into their 17α-hydroxy derivatives, which are precursors to the sex hormones estrogen and testosterone.
Clinical significance[edit | edit source]
Deficiency in 17α-Hydroxylase can lead to a rare form of congenital adrenal hyperplasia (CAH), known as 17α-Hydroxylase deficiency. This condition is characterized by a lack of glucocorticoids and sex steroids, and an overproduction of mineralocorticoids, leading to hypertension and hypokalemia.
On the other hand, overactivity of 17α-Hydroxylase can result in an excess of glucocorticoids and sex steroids, leading to conditions such as Cushing's syndrome and polycystic ovary syndrome (PCOS).
See also[edit | edit source]
- Cytochrome P450
- Glucocorticoid
- Congenital adrenal hyperplasia
- Cushing's syndrome
- Polycystic ovary syndrome
References[edit | edit source]
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