AQP2

The AQP2 gene provides instructions for making a protein called aquaporin 2. This protein functions as a water channel, specifically in the collecting ducts of the kidneys. These channels are crucial for the kidneys' ability to concentrate urine and reabsorb water back into the bloodstream.1

The process of concentrating urine involves a complex mechanism, including the loop of Henle and the action of antidiuretic hormone (ADH). Aquaporins, like aquaporin 2, facilitate the passage of water across cell membranes, playing a vital role in maintaining the body's water and electrolyte balance. Mutations in the AQP2 gene can lead to impaired kidney function and conditions like nephrogenic diabetes insipidus.21