PKD2

Description

The PKD2 gene, located on chromosome 4, provides instructions for making a protein called polycystin-2. This protein plays a crucial role in cell communication, calcium signaling, and fluid balance within the kidneys. Mutations in the PKD2 gene are a leading cause of autosomal dominant polycystic kidney disease (ADPKD), a genetic disorder characterized by the growth of numerous cysts in the kidneys. These cysts can eventually lead to kidney failure. Understanding the function of the PKD2 gene and its role in ADPKD is essential for developing effective treatments and therapies.

Associated Diseases

• Autosomal Dominant Polycystic Kidney Disease (ADPKD)
• Nephronophthisis
• Autosomal Recessive Polycystic Kidney Disease (ARPKD)

Did you know?

Mutations in the PKD2 gene are also associated with other health issues, including liver cysts, heart valve defects, and brain aneurysms.