PKD1

Description

The PKD1 gene holds a critical role in human health, encoding for polycystin-1, a protein involved in cell signaling and cell-cell interactions. Mutations in this gene are the primary cause of autosomal dominant polycystic kidney disease (ADPKD), a prevalent genetic disorder characterized by the development of numerous cysts within the kidneys. These cysts disrupt kidney function, leading to kidney failure in most affected individuals. Understanding the intricacies of the PKD1 gene and its associated protein is crucial for developing effective treatments and potential cures for ADPKD.

Associated Diseases

• Autosomal dominant polycystic kidney disease (ADPKD)
• Polycystic liver disease
• Cerebrovascular disease
• Cardiac valvular disease
• Colonic diverticulosis

Did you know?

The PKD1 gene is one of the largest known human genes, spanning over 500,000 base pairs and containing over 46 exons.