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Article

In silico structure-function analysis of pathological variation in the HSD11B2 gene sequence.

Physiological genomics - 1 Aug 2010

Manning Jonathan R, Bailey Matthew A, Soares Dinesh C, Dunbar Donald R, Mullins John J

Abstract excerpt

11beta-Hydroxysteroid dehydrogenase type 2 (11betaHSD2) is a short-chain dehydrogenase/reductase (SDR) responsible for inactivating cortisol and preventing its binding to the mineralocorticoid receptor (MR). Nonfunctional mutations in HSD11B2, the gene encoding 11betaHSD2, cause the hypertensive syndrome of apparent mineralocorticoid excess (AME). Like other such Mendelian disorders, AME is rare but has...

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Identifiers

PMID: 20571110
DOI: 10.1152/physiolgenomics.00053.2010
PMCID: PMC2929884

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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