CYP21A2 encodes steroid 21-hydroxylase, a cytochrome P450 enzyme essential for adrenal steroidogenesis 1. The enzyme catalyzes the hydroxylation at C-21 of progesterone and 17α-hydroxyprogesterone to form 11-deoxycorticosterone and 11-deoxycortisol, respectively, which are intermediate metabolites in the biosynthetic pathways of mineralocorticoids and glucocorticoids 1. CYP21A2 is located on chromosome 6 and functions as a monooxygenase that uses molecular oxygen and electrons from NADPH via cytochrome P450 reductase 2. Mutations in CYP21A2 cause congenital adrenal hyperplasia (CAH), accounting for over 95% of CAH cases 3. The disease presents as a spectrum ranging from severe salt-wasting forms to milder nonclassical forms, depending on the degree of enzyme deficiency 4. Classic CAH occurs in approximately 1 in 16,000 births and manifests with cortisol and aldosterone deficiencies, leading to virilization and potential salt-wasting crisis 4. Over 100 CYP21A2 mutations have been identified, with structure-function relationships determining clinical severity 5. The condition requires lifelong glucocorticoid replacement therapy and careful management during pregnancy and other stress conditions 6.
No tissue expression data available for this gene.