What is the function of 21-hydroxylase deficiency?

21-hydroxylase deficiency is caused by a shortage (deficiency) of the 21-hydroxylase enzyme. When 21-hydroxylase is lacking, substances that are usually used to form cortisol and aldosterone instead build up in the adrenal glands and are converted to androgens.

What chromosome is 21-hydroxylase on?

The gene which encodes 21-hydroxylase is a microsomal cytochrome P450 termed cytochrome P450, family 21, subfamily A, polypeptide 21, or CYP21A2. The gene is located on chromosome 6p21.

What happens to a baby girl who is born with CAH condition?

Babies with a type of CAH called “salt-wasting” do not make enough aldosterone and they lose too much salt and water in their urine. They become dehydrated and their blood pressure drops too low. This can be life-threatening if not treated quickly. The other hormones made by the adrenal glands are called androgens.

What is the function of steroid 21-hydroxylase?

Steroid 21-hydroxylase, also called steroid 21-monooxygenase, 21α-hydroxylase, P45021A2, and, less commonly 21β-hydroxylase, is a cytochrome P450 enzyme that is involved with the biosynthesis of the steroid hormones aldosterone and cortisol. These syntheses take place in the adrenal cortex.

What is the structure of 21-hydroxylase?

21-hydroxylase is an essential enzyme in the biosynthetic pathways that produce cortisol and aldosterone. 21-hydroxylase is a complex of three independent and identical enzyme subunits. Each subunit in the human enzyme consists of 13 α-helices and 9 ß-strands, formed into a triangular prism-like tertiary structure.

What is 21-hydroxylase deficiency?

21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH). CAH is a group of disorders that affect how the adrenal glands work. In 21-hydroxylase deficiency, a missing enzymeleads to overproduction of specific hormonesmade by the adrenal glands.

Where is steroid 21-hydroxylase found in the human genome?

“Two genes encoding steroid 21-hydroxylase are located near the genes encoding the fourth component of complement in man”. Proceedings of the National Academy of Sciences of the United States of America. 82 (4): 1089–93.