PKHD1 is a gene located on chromosome 6 that provides instructions for producing a protein called fibrocystin. This protein is primarily found in the kidneys and liver, where it plays a crucial role in the development and function of these organs. Mutations in the PKHD1 gene can lead to serious health conditions, particularly affecting kidney and liver function. Mutations in PKHD1 are most commonly associated with autosomal recessive polycystic kidney disease (ARPKD), a genetic disorder characterized by the formation of cysts in the kidneys and liver. Individuals with ARPKD may experience symptoms such as high blood pressure, kidney failure, and liver complications, highlighting the importance of the PKHD1 gene in maintaining organ health.