ADH1B
ADH1B: A Crucial Gene in Maintaining Fluid and Electrolyte Balance
Description
ADH1B, also known as the antidiuretic hormone receptor B, is a gene that provides instructions for creating a protein called the vasopressin type 2 receptor (V2R). V2R is a receptor found on the surface of cells in the kidneys, which responds to the hormone vasopressin (antidiuretic hormone). Vasopressin is a hormone released by the pituitary gland in response to changes in fluid levels and blood pressure. When vasopressin binds to V2R, it triggers a cascade of events that ultimately result in increased water reabsorption by the kidneys, reducing urine output and concentrating the urine. As a result, more water is retained in the body, which is essential for maintaining fluid and electrolyte balance.
Associated Diseases
Mutations in the ADH1B gene can lead to several diseases, including:
Nephrogenic Diabetes Insipidus (NDI)
NDI is a condition where the kidneys are unable to respond to vasopressin, resulting in the inability to concentrate urine and excessive water loss. This leads to increased thirst, frequent urination, and dehydration.
Central Diabetes Insipidus (CDI)
CDI is a condition where the pituitary gland does not produce enough vasopressin. This also results in excessive water loss and dehydration.
Did you Know ?
Approximately 1 in 50,000 people worldwide may be affected by NDI, highlighting the prevalence of disorders associated with the ADH1B gene.
