The steroid 11beta-hydroxylase gene, also designated Cyp11b-1, is a marker for the functional differentiation of cells in the zonae fasciculata reticularis. The deduced protein CYP11B1 consists of 466 amino acids containing a secretory signal, epidermal growth factor-like repeats, and a proteolytically inactive cathepsin B-related sequence. A related protein, human aldosterone synthase (CYP11B2), is involved in substrate recognition and conversion, with a functionally significant residue 112 in the N-terminal region of human CYP11B2. The inherited disorder glucocorticoid-remediable aldosteronism is caused by a chimeric gene duplication between the CYP11B1 and CYP11B2 genes. This disorder is characterized by hyperaldosteronism and high levels of 18-hydroxycortisol and 18-oxocortisol, which are under ACTH control.
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Protein Aliases: aldosterone synthase; CYPXIB1; Cytochrome P-450c11; Cytochrome P450 11B1, mitochondrial; cytochrome p450 XIB1; cytochrome P450(11 beta)-DS; cytochrome P450, family 11, subfamily B, polypeptide 1; cytochrome P450, subfamily 11B, polypeptide 1; cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1; Cytochrome P450, subfamily XIB, polypeptide 1 (steroid 11-beta-hydroxylase); Cytochrome P450C11; DKFZp686B05283; FLJ36771; P450(11 beta)-DS; P450C 11; P450C11; steroid 11-beta-hydroxylase; Steroid 11-beta-hydroxylase, CYP11B1; steroid 11-beta-monooxygenase; steroid-11-beta-hydroxylase
Gene Aliases: AA389061; Cp11ba; CPN1; CYP11B; Cyp11b-1; CYP11B1; FHI; P450C11; RATCP11BA; S11BH
UniProt ID: (Human) P15538