AVPR2
AVPR2 (Arginine Vasopressin Receptor 2) is a protein that in humans is encoded by the AVPR2 gene. It is located on the X chromosome and mutations in this gene can lead to nephrogenic diabetes insipidus.
Function[edit | edit source]
The AVPR2 protein is a receptor for arginine vasopressin, a hormone that regulates the reabsorption of water by the kidneys. The receptor is located on the cells of the kidney's collecting ducts and responds to arginine vasopressin by activating a cyclic AMP signaling pathway. This leads to the reabsorption of water into the body, helping to concentrate urine and prevent dehydration.
Clinical significance[edit | edit source]
Mutations in the AVPR2 gene can lead to nephrogenic diabetes insipidus, a condition characterized by excessive thirst and the excretion of large amounts of diluted urine. This is due to the kidneys' inability to respond to arginine vasopressin, leading to an inability to concentrate urine. The condition is usually inherited in an X-linked recessive manner.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
- AVPR2 at the National Center for Biotechnology Information
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Contributors: Prab R. Tumpati, MD
