Official Full Name
cytochrome P450, family 21, subfamily A, polypeptide 2
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. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene.
CYP21A2; cytochrome P450, family 21, subfamily A, polypeptide 2; CYP21, CYP21B, cytochrome P450, subfamily XXIA (steroid 21 hydroxylase, congenital adrenal hyperplasia), polypeptide 2; steroid 21-hydroxylase; CA21H; CAH1; CPS1; P450c21B; Steroid 21 monooxygenase; CYP21; CYP21B; P450 C21; P450 C21B; Steroid 21 hydroxylase; CYP21A 2; Cytochrome P450 21; 21-OHase; cytochrome P450 XXI; cytochrome P450-C21B; steroid 21-monooxygenase; cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2; MGC150536; MGC150537