Peptide sequence: ARNPNVQQAL RQESLAAAAS ISEHPQKATT ELPLLRAALK ETLRLYPVGL
Sequence homology: Human: 100%; Pig: 79%; Sheep: 79%
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: CPN1; CYP11B; CYPXIB1; Cytochrome P-450c11; CytoChrome P450; Cytochrome P450 11B1, mitochondrial; cytochrome p450 XIB1; cytochrome P450, family 11, subfamily B, polypeptide 1; cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1; Cytochrome P450C11; DKFZp686B05283; family 11; FHI; FLJ36771; P450C 11; polypeptide 1; steroid 11-beta-hydroxylase; Steroid 11-beta-hydroxylase, CYP11B1; steroid 11-beta-monooxygenase; subfamily B
Gene Aliases: CPN1; CYP11B; CYP11B1; FHI; P450C11; S11BH