The R337C mutation generates a high Km 11 beta-hydroxysteroid dehydrogenase type II enzyme in a family with apparent mineralocorticoid excess.

doi:10.1210/jcem.80.11.7593456

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Article

The R337C mutation generates a high Km 11 beta-hydroxysteroid dehydrogenase type II enzyme in a family with apparent mineralocorticoid excess.

The Journal of clinical endocrinology and metabolism - 1 Nov 1995

Obeyesekere V R, Ferrari P, Andrews R K, Wilson R C, New M I, Funder J W, Krozowski Z S

Abstract excerpt

The 11 beta-hydroxysteroid dehydrogenase type II enzyme (11 beta HSD2) inactivates glucocorticoids in the kidney and thus permits aldosterone to occupy the non-selective mineralocorticoid receptor in epithelial tissues. We have recently described a C to T transition in the HSD11B2 gene which resu...

Topics

11-beta-Hydroxysteroid Dehydrogenases
Base Sequence
Humans
Hydrocortisone
Hydroxysteroid Dehydrogenases
Mineralocorticoids
Molecular Sequence Data
Mutation
Oligonucleotide Probes

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Identifiers

PMID: 7593456
DOI: 10.1210/jcem.80.11.7593456

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7593456-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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