|PDB structures||RCSB PDB PDBe PDBsum|
|Gene Ontology||AmiGO / QuickGO|
In humans, 21-Hydroxylase is encoded by the gene CYP21A2.
Names and classification
21-Hydroxylase is also called steroid 21-monooxygenase, 21α-Hydroxylase, and, less commonly 21β-Hydroxylase.
This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone.
Script error: No such module "Gallery".
A defect within the CYP21A2 gene causes a disturbance of the development of the enzyme, which leads to congenital adrenal hyperplasia due to 21-hydroxylase deficiency. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought account for many cases of steroid 21-hydroxylase deficiency.
- GeneReviews/NCBI/NIH/UW entry on 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- OMIM entry on 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia
- Synthesis of Desoxycorticosterone from Progesterone through 21-Hydroxylase (Image)
- Steroid+21-Hydroxylase at the US National Library of Medicine Medical Subject Headings (MeSH)