HSD11B1
Description
The HSD11B1 gene provides instructions for making an enzyme called 11β-hydroxysteroid dehydrogenase type 1 (11β-HSD1). This enzyme plays a crucial role in the metabolism of cortisol, a hormone produced by the adrenal glands. 11β-HSD1 converts inactive cortisone into active cortisol, thereby increasing the local concentration of cortisol in various tissues. This process is essential for regulating blood pressure, blood sugar levels, and immune function. The gene is located on chromosome 16 and is highly expressed in the liver, adipose tissue, and kidneys.
Associated Diseases
- Cushing‘s syndrome: A condition caused by excessive cortisol production, which can be due to HSD11B1 gene mutations.
- Metabolic syndrome: HSD11B1 gene variations are associated with increased risk of developing metabolic syndrome, a cluster of conditions that increase the risk of heart disease, stroke, and type 2 diabetes.
- Obesity: 11β-HSD1 is involved in fat metabolism and its increased activity in adipose tissue contributes to weight gain.
- Preeclampsia: A serious pregnancy complication characterized by high blood pressure, is linked to alterations in HSD11B1 expression.
Did you know?
The HSD11B1 gene is one of the few genes whose expression is regulated by both cortisol and insulin, highlighting its complex role in metabolic regulation.
