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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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