Gene: GML

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

Gene: CYP11B1

Alternate names for this Gene: CPN1|CYP11B|FHI|P450C11

Gene Summary: This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the mitochondrial inner membrane and is involved in the conversion of progesterone to cortisol in the adrenal cortex. Mutations in this gene cause congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Transcript variants encoding different isoforms have been noted for this gene.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.3

Description of this Gene: cytochrome P450 family 11 subfamily B member 1

Type of Gene: protein-coding

rs12674916 in GML;CYP11B1 gene and Androstenedione measurement PMID 31169883 2019 Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease.

rs104894062 in GML;CYP11B1 gene and Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency PMID 23940125 2013 A diagnosis not to be missed: nonclassic steroid 11β-hydroxylase deficiency presenting with premature adrenarche and hirsutism.

PMID 24987415 2014 Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11 β -Hydroxylase Deficiency.

PMID 9302260 1997 CYP11B1 mutations causing non-classic adrenal hyperplasia due to 11 beta-hydroxylase deficiency.

PMID 24022297 2014 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations.

PMID 20947076 2011 Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11β-hydroxylase deficiency in a Chinese patient.

PMID 20089618 2010 Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.

PMID 26476331 2016 Phenotypic, metabolic, and molecular genetic characterization of six patients with congenital adrenal hyperplasia caused by novel mutations in the CYP11B1 gene.

PMID 20331679 2010 Only two mutations detected in 15 Tunisian patients with 11β-hydroxylase deficiency: the p.Q356X and the novel p.G379V.

PMID 2022736 1991 A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.

PMID 24536089 2014 Characterisation of three novel CYP11B1 mutations in classic and non-classic 11β-hydroxylase deficiency.

PMID 26053152 2015 Characterization of the molecular genetic pathology in patients with 11β-hydroxylase deficiency.

PMID 16046588 2005 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia.

PMID 8506298 1993 Two mutations in CYP11B1 have previously been reported in patients with 11 beta-hydroxylase deficiency--Arg-448-->His and a 2-bp insertion in codon 394.

PMID 22964742 2013 A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiency.

PMID 2022736 1991 A mutation in CYP11B1 (Arg-448----His) associated with steroid 11 beta-hydroxylase deficiency in Jews of Moroccan origin.

PMID 15755848 2005 Congenital adrenal hyperplasia due to 11-hydroxylase deficiency: functional characterization of two novel point mutations and a three-base pair deletion in the CYP11B1 gene.

PMID 18663314 2008 A homozygous L299P mutation in the CYP11B1 gene leads to complete virilization in 46,XX individuals with 11-beta-hydroxylase deficiency.

PMID 26956189 2017 Novel and prevalent CYP11B1 gene mutations in Turkish patients with 11-β hydroxylase deficiency.

PMID 8964882 1996 Single strand conformation polymorphism (SSCP) analysis for the detection of mutations in the CYP11B1 gene.

PMID 15751602 2005 Update on the prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.

PMID 8506298 1993 Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6, 7, and 8.

PMID 28228528 2017 Clinical, genetic, and structural basis of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.