PKD1 is a gene located on chromosome 16 that plays a crucial role in the development of the kidneys. It provides instructions for making a protein called polycystin-1, which is essential for normal kidney function and helps regulate cell growth and fluid balance. Mutations in the PKD1 gene are primarily associated with autosomal dominant polycystic kidney disease (ADPKD), a genetic disorder characterized by the formation of fluid-filled cysts in the kidneys. This condition can lead to kidney failure and other complications, making early diagnosis and management important for affected individuals.