ADH1A
ADH1A: A Key Player in Water and Electrolyte Balance
Description
Antidiuretic hormone receptor type 1A (ADH1A) is a G protein-coupled receptor (GPCR) responsible for regulating water reabsorption in the kidneys. It is primarily expressed in the collecting ducts and interacts with antidiuretic hormone (ADH), also known as vasopressin.
When ADH binds to ADH1A, it triggers a signaling cascade that increases the permeability of the collecting ducts to water, allowing it to be reabsorbed back into the bloodstream. This process is crucial for maintaining fluid and electrolyte balance in the body.
Associated Diseases
Mutations or dysregulation of ADH1A can lead to several disorders related to water balance:
- Central diabetes insipidus (CDI): Occurs when the pituitary gland fails to produce sufficient ADH, resulting in excessive urination and dehydration.
- Nephrogenic diabetes insipidus (NDI): Occurs when the kidneys fail to respond to ADH, causing the inability to concentrate urine and resulting in polyuria (excessive urination).
- Syndrome of inappropriate antidiuretic hormone secretion (SIADH): Occurs when too much ADH is produced, leading to water retention and hyponatremia (low sodium levels).
Did you Know ?
Approximately 1 in 100,000 people worldwide are affected by NDI, making it a rare but potentially serious condition.
