| Modification Notes |
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the formation of cysts in kidney tubules as well as in liver and pancreas tissues. Cells within these cysts display abnormalities in proliferation and polarity. The integral membrane protein, Polycystin-1 (PKD1) is mutated in a majority of patients with ADPKD. Polycystin-1 is expressed in renal tubular epithelial cells and colocalizes with cell and focal adhesion proteins, including E-cadherin, catenins, vinculin, and paxillin, to focal areas in order to form a larger multiprotein complex. Polycystin-1 is posttranslationally modified by tyrosine phosphorylation and associates with Polycystin-2 (PKD2) to mediate AP-1 expression, which suggests that Polycystin-1 is involved in cell-cell and cell-matrix interactions to control cell proliferation and polarity. |