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 mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene.
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Protein Aliases: ALDOS; Aldosterone synthase; Aldosterone-synthesizing enzyme; Corticosterone 18-monooxygenase, CYP11B2; CYPXIB2; Cytochrome P-450Aldo; Cytochrome P-450C18; Cytochrome P450 11B2, mitochondrial; cytochrome P450, family 11, subfamily B, polypeptide 2; cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2; Cytochrome P450C11; mitochondrial cytochrome P450, family 11, subfamily B, polypeptide 2; P-450C 18; P450C 18; steroid 11-beta-hydroxylase; Steroid 11-beta-hydroxylase, CYP11B2; steroid 11-beta-monooxygenase; steroid 11-beta/18-hydroxylase; Steroid 18-hydroxylase; steroid 18-hydroxylase, aldosterone synthase, P450C18, P450aldo; steroid-11-beta-hydroxylase
Gene Aliases: ALDOS; CPN2; CYP11B; Cyp11b-2; CYP11B2; CYP11BL; CYPXIB2; P-450C18; P450aldo; P450C18