CYP11B1 Peptide - N-Terminal Region Blocking Peptide

CYP11B1: Has steroid 11-beta-hydroxylase activity. In addition to this activity, the 18 or 19-hydroxylation of steroids and the aromatization of androstendione to estrone have also been ascribed to cytochrome P450 XIB. Defects in CYP11B1 are the cause of adrenal hyperplasia type 4 (AH4). AH4 is a form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: salt wasting (SW, the most severe type), simple virilizing (SV, less severely affected patients), with normal aldosterone biosynthesis, non-classic form or late onset (NC or LOAH), and cryptic (asymptomatic). AH4 patients usually have hypertension. Defects in CYP11B1 are a cause of familial hyperaldosteronism type 1 (FH1). It is a disorder characterized by hypertension, variable hyperaldosteronism, and abnormal adrenal steroid production, including 18-oxocortisol and 18-hydroxycortisol. There is significant phenotypic heterogeneity, and some individuals never develop hypertension. The molecular defect causing hyperaldosteronism familial type 1 is an anti-Lepore-type fusion of the CYP11B1 and CYP11B2 genes. The hybrid gene has the promoting part of CYP11B1, ACTH-sensitive, and the coding part of CYP11B2. Belongs to the cytochrome P450 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Oxidoreductase; EC 1.14.15.4; Lipid Metabolism - C21-steroid hormone; Mitochondrial; Lipid Metabolism - androgen and estrogen

Chromosomal Location of Human Ortholog: 8q21

Cellular Component: mitochondrion; mitochondrial inner membrane

Molecular Function: steroid 11-beta-monooxygenase activity; iron ion binding; heme binding

Biological Process: steroid metabolic process; regulation of blood pressure; xenobiotic metabolic process; C21-steroid hormone biosynthetic process; immune response; glucocorticoid biosynthetic process; glucose homeostasis; sterol metabolic process; aldosterone biosynthetic process; cellular response to hormone stimulus

Disease: Glucocorticoid-remediable Aldosteronism; Adrenal Hyperplasia, Congenital, Due To Steroid 11-beta-hydroxylase Deficiency