HSD11B2
Description
The HSD11B2 gene encodes for the enzyme 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2), a critical player in the regulation of cortisol levels in the body. This enzyme is primarily expressed in mineralocorticoid target tissues, such as the kidneys, salivary glands, and colon. Its primary function is to inactivate cortisol, preventing it from binding to mineralocorticoid receptors (MRs), which would otherwise lead to sodium retention and hypertension. This selective inactivation is crucial for maintaining the delicate balance of mineralocorticoid and glucocorticoid signaling.
Associated Diseases
- Apparent Mineralocorticoid Excess (AME): A rare genetic disorder characterized by increased sensitivity to cortisol due to mutations in the HSD11B2 gene, leading to hypertension and electrolyte imbalances.
- Salt-Losing Syndromes: Inactivating mutations in the HSD11B2 gene can cause salt-losing syndromes in newborns due to impaired mineralocorticoid activity.
- Cortisol-Dependent Hypertension: While less common than AME, mutations in HSD11B2 can also contribute to hypertension by altering cortisol metabolism in specific tissues.
Did you know?
Interestingly, HSD11B2 is also expressed in the placenta, where it protects the fetus from excessive maternal cortisol levels, highlighting its importance in pregnancy.
