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

Gene: GML

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

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Description of this Gene:

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rs11781816 in CYP11B2;GML gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs104894072 in CYP11B2;GML gene and Corticosterone Methyl Oxidase Type II Deficiency PMID 1594605 1992 Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency.

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

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

PMID 1346492 1992 Congenitally defective aldosterone biosynthesis in humans: the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients.

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

rs3802228 in CYP11B2;GML gene and Systolic Pressure PMID 30578418 2019 Trans-ethnic association study of blood pressure determinants in over 750,000 individuals.