Cyp11b1

CYP11B1 (Cytochrome P450 Family 11 Subfamily B Member 1) is a protein coding gene. Diseases associated with CYP11B1 include Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency and Hyperaldosteronism, Familial, Type I. Among its

Cytochrome P450 Family 11 Subfamily B Member 1

A cytochrome P450 monooxygenase involved in the biosynthesis of adrenal corticoids (PubMed:18215163).

Catalyzes the hydroxylation of carbon hydrogen bond at 11-beta position of 11-deoxycortisol and 11-deoxycorticosterone/21-hydroxyprogesterone yielding cortisol or corticosterone, respectively (PubMed:18215163).

Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate and reducing the second into a water molecule. Two electrons are provided by NADPH via a two-protein mitochondrial transfer system comprising flavoprotein FDXR (adrenodoxin/ferredoxin reductase) and nonheme iron-sulfur protein FDX1 or FDX2 (adrenodoxin/ferredoxin) (PubMed:18215163).

Aldosterone biosynthetic process Source: BHF-UCL
C21-steroid hormone biosynthetic process Source: BHF-UCL
Cellular response to hormone stimulus Source: UniProtKB
Cellular response to peptide hormone stimulus Source: GO_Central
Cellular response to potassium ion Source: UniProtKB
Cholesterol metabolic process Source: GO_Central
Cortisol biosynthetic process Source: BHF-UCL
Cortisol metabolic process Source: GO_Central
Glucocorticoid biosynthetic process Source: GO_Central
Glucose homeostasis Source: BHF-UCL
Immune response Source: BHF-UCL
Regulation of blood pressure Source: BHF-UCL
Sterol metabolic process Source: Reactome

Mitochondrion inner membrane

Adrenal hyperplasia 4 (AH4):
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).
Hyperaldosteronism, familial, 1 (HALD1):
The disease is caused by variants affecting the gene represented in this entry. The molecular defect causing hyperaldosteronism familial 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.
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.