FunctionMay be an ion-channel regulator. PKD1 and PKD2 may function through a common signaling pathway that is necessary for normal tubulogenesis. Involved in adhesive protein-protein and protein-carbohydrate interactions.
Involvement in diseaseDefects in PKD1 are the cause of polycystic kidney disease autosomal dominant type 1 (ADPKD1) [MIM:173900]. ADPKD is characterized by progressive formation and enlargement of cysts in both kidneys, typically leading to end-stage renal disease in adult life. Cysts also occurs in the liver and other organs. Its prevalence is estimated at about 1/1000.