Genetic analysis of 11 beta-hydroxysteroid dehydrogenase

Steroids. 1994 Feb;59(2):111-5. doi: 10.1016/0039-128x(94)90086-8.


11 beta-Hydroxysteroid dehydrogenase (11 beta-OHSD) catalyzes the interconversion of cortisol and cortisone. This activity is postulated to protect the Type I (mineralocorticoid) receptor from excessive concentrations of cortisol, allowing aldosterone to function as a mineralocorticoid. An enzyme with 11 beta-OHSD activity was isolated from rat liver and the corresponding rat and human cDNA and genomic clones isolated. This enzyme is a member of the short-chain dehydrogenase family. Using site-directed mutagenesis, it was demonstrated that the amino terminus and two highly conserved residues, Tyr-179 and Lys-183, are required for enzymatic function. Examination of patients with apparent mineralocorticoid excess, a syndrome of juvenile hypertension thought to represent 11 beta-OHSD deficiency, did not reveal any mutations in the HSD11 gene. This disorder may involve an additional enzyme with 11 beta-OHSD activity or possibly another cortisol metabolizing enzyme.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • 11-beta-Hydroxysteroid Dehydrogenases
  • Amino Acid Sequence
  • Animals
  • Humans
  • Hydroxysteroid Dehydrogenases / genetics*
  • Metabolism, Inborn Errors / enzymology
  • Mineralocorticoids / metabolism
  • Molecular Sequence Data
  • Mutagenesis, Site-Directed
  • Mutation


  • Mineralocorticoids
  • Hydroxysteroid Dehydrogenases
  • 11-beta-Hydroxysteroid Dehydrogenases