rs371126595

This variant is located in the CYP11B2 gene.

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ClinVar annotation

Likely Benign★★★☆

4 submitters1 publication

not provided; Glucocorticoid-remediable aldosteronism; Corticosterone 18-monooxygenase deficiency; Corticosterone methyloxidase type 2 deficiency; not specified

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About CYP11B2

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. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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