NIH R01 · 2025
Polycystin-1 C terminal tail cleavage: Mechanisms and meaning
Summary Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common potentially lethal genetic disorders, affecting ~1:1,000 people and producing end stage renal disease in 50% of affected individuals. The disease is characterized by the formation of nephron- derived fluid-filled cysts, whose initiation and expansion compromises the structure and function of the remaining renal parenchyma. ADPKD is caused by mutations in either of two genes, Pkd1 and Pkd2, which encode polycystin-1 (PC1) and polycystin-2 (PC2), respectively. PC1 is an extremely large membrane protein comprised of 4,302 amino acids that spans the bilayer 11 times. PC2 spans the membrane 6 times and is a…
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