21-hydroxylase
21-Hydroxylase
21-Hydroxylase (pronounced "twenty-one hydroxylase") is an enzyme involved in the production of steroid hormones in the human body. It is encoded by the CYP21A2 gene.
Etymology
The term "21-Hydroxylase" is derived from its function. The number "21" refers to the position of the hydroxyl group that the enzyme adds to the steroid molecule. "Hydroxylase" is a general term for enzymes that catalyze the addition of a hydroxyl group (-OH) to an organic compound.
Function
21-Hydroxylase is a crucial enzyme in the biosynthesis of the steroid hormones cortisol and aldosterone. It catalyzes the conversion of progesterone to 11-deoxycorticosterone and 17-hydroxyprogesterone to 11-deoxycortisol.
Clinical significance
Deficiency of 21-hydroxylase, known as 21-hydroxylase deficiency, is the most common cause of congenital adrenal hyperplasia (CAH), a group of inherited disorders of the adrenal glands. Symptoms can vary widely and are typically present at birth or during early childhood.
Related terms
- CYP21A2: The gene that encodes the 21-hydroxylase enzyme.
- Steroid hormones: Hormones produced in the adrenal cortex that 21-hydroxylase helps to synthesize.
- Congenital adrenal hyperplasia: A group of inherited disorders caused by mutations in genes that code for enzymes involved in steroid hormone production, including 21-hydroxylase.
- 21-hydroxylase deficiency: A specific form of congenital adrenal hyperplasia caused by a deficiency in the 21-hydroxylase enzyme.
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