Article
The codon 213 of the 11beta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess.
The Journal of clinical endocrinology and metabolism - 1 Dec 1998
Rogoff D, Smolenicka Z, Bergadá I, Vallejo G, Barontini M, Heinrich J J, Ferrari P
Abstract excerpt
In the kidney, the 11beta-hydroxysteroid dehydrogenase type 2 enzyme (11betaHSD2) inactivates glucocorticoids to their inactive ketoforms and thus prevents endogenous glucocorticoids from occupying the nonselective mineralocorticoid receptor in epithelial tissues. Several mutations have been desc...
Topics
- 11-beta-Hydroxysteroid Dehydrogenases
- Amino Acid Sequence
- Base Sequence
- Child
- Codon
- Humans
- Hydroxysteroid Dehydrogenases
- Hypertension
- Isoenzymes
- Male
- Mineralocorticoids
- Mutation
- Syndrome