CYP21A2 is 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 CYP21A2 gene cause congenital adrenal hyperplasia.
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Protein Aliases: 21-OHase; CYP21; CYP21A2; CYP21B; Cytochrome P-450c21; Cytochrome P450 21; Cytochrome P450 XXI; cytochrome P450, family 21, subfamily A, polypeptide 2; cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2; Cytochrome P450-C21; Cytochrome P450-C21B; P-450c21; P450-C21; P450-C21B; steroid 21 hydroxylase; Steroid 21-hydroxylase; steroid 21-monooxygenase
Gene Aliases: CA21H; CAH1; CPS1; CYP21; CYP21A2; CYP21B; P450c21B
UniProt ID: (Human) P08686
Entrez Gene ID: (Human) 1589