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: CYP11B2

Alternate names for this Gene: ALDOS|CPN2|CYP11B|CYP11BL|CYPXIB2|P-450C18|P450C18|P450aldo

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. The enzyme has steroid 18-hydroxylase activity to synthesize aldosterone and 18-oxocortisol as well as steroid 11 beta-hydroxylase activity. Mutations in this gene cause corticosterone methyl oxidase deficiency.

Gene is located in Chromosome: 8

Location in Chromosome : 8q24.3

Description of this Gene: cytochrome P450 family 11 subfamily B member 2

Type of Gene: protein-coding

rs72554627 in GML;CYP11B2 gene and Corticosterone Methyl Oxidase Type I Deficiency PMID 9177280 1997 CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450C18).

PMID 11238478 2001 Type 1 aldosterone synthase deficiency presenting in a middle-aged man.

rs28931609 in GML;CYP11B2 gene and Corticosterone Methyl Oxidase Type II Deficiency PMID 1594605 1992 All individuals affected with CMO-II deficiency were homozygous for both mutations, whereas eight asymptomatic subjects were homozygous for R181W alone and three were homozygous for V386A alone.

PMID 9814506 1998 Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.

PMID 9625333 1998 Mutation THR-185 ILE is associated with corticosterone methyl oxidase deficiency type II.

PMID 12788848 2003 A compound heterozygote case of type II aldosterone synthase deficiency.

PMID 1346492 1992 Molecular genetic analysis of the P-450C18 gene is three patients from three different families affected with CMO II deficiency has indicated that a point mutation of CGG----TGG (181Arg----Trp) in exon 3 and one of GTG----GCG (386Val----Ala) in exon 7 occur exclusively in the gene of the patients.

rs6418 in GML;CYP11B2 gene and Diastolic blood pressure PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs6418 in GML;CYP11B2 gene and Hypertensive disease PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs6418 in GML;CYP11B2 gene and Mean blood pressure PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.

rs3802230 in GML;CYP11B2 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30487518 2018 Interethnic analyses of blood pressure loci in populations of East Asian and European descent.