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...
Topics
- 11-beta-Hydroxysteroid Dehydrogenase Type 2
- Amino Acid Sequence
- Animals
- Computational Biology
- DNA Mutational Analysis
- Databases, Genetic
- Family
- Genetic Predisposition to Disease
- Humans
- Hypertension
- Mineralocorticoid Excess Syndrome, Apparent
- Models, Biological
- Models, Molecular