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: ALDOS; Aldosterone synthase; Aldosterone-synthesizing enzyme; Corticosterone 18-monooxygenase, CYP11B2; CYPXIB1; CYPXIB2; Cytochrome P-450Aldo; Cytochrome P-450c11; Cytochrome P-450C18; Cytochrome P450 11B1, mitochondrial; Cytochrome P450 11B2, mitochondrial; cytochrome p450 XIB1; cytochrome P450, family 11, subfamily B, polypeptide 1; cytochrome P450, family 11, subfamily B, polypeptide 2; cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1; cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2; Cytochrome P450C11; mitochondrial cytochrome P450, family 11, subfamily B, polypeptide 2; steroid 11-beta-hydroxylase; Steroid 11-beta-hydroxylase, CYP11B1; Steroid 11-beta-hydroxylase, CYP11B2; steroid 11-beta-monooxygenase; steroid 11-beta/18-hydroxylase; Steroid 18-hydroxylase; steroid 18-hydroxylase, aldosterone synthase, P450C18, P450aldo
Gene Aliases: ALDOS; CPN1; CPN2; CYP11B; CYP11B1; CYP11B2; CYP11BL; CYPXIB2; FHI; P-450C18; P450aldo; P450C11; P450C18; S11BH