Polycystin-L (PCL), the third member of the polycystin family of proteins, functions as a Ca
2+-modulated nonselective cation channel when expressed in Xenopus oocytes. Polycystin …

Polycystin-1 and polycystin-2 are the products of PKD1 and PKD2, genes that are mutated in
most cases of autosomal dominant polycystic kidney disease. Polycystin-2 shares∼ 46 …

Defects in polycystin-2, a ubiquitous transmembrane glycoprotein of unknown function, is a
major cause of autosomal dominant polycystic kidney disease (ADPKD), whose …

Mutations in the PKD1 and PKD2 genes account for 85 and 15% of cases of autosomal
dominant polycystic kidney disease, respectively. Polycystin-2, the product of the PKD2 …

Polycystin-L (PCL) is highly homologous in sequence and membrane topology to polycystin-
2, the product of the second gene responsible for autosomal dominant polycystic kidney …

The most common form of autosomal dominant polycystic kidney disease (PKD) results from
mutation of the PKD1 gene on chromosome 16p13. 3. The gene encodes a 14-kb …

Abstract Mutations in polycystin 2 (PC2), a Ca 2+-permeable cation channel, cause
autosomal dominant polycystic kidney disease. Whether PC2 functions in the endoplasmic …

Autosomal dominant polycystic kidney disease (ADPKD) is a prevalent genetic disorder
largely caused by mutations in the PKD1 and PKD2 genes that encode the transmembrane …

Autosomal dominant polycystic kidney disease (PKD) is caused by mutation of polycystin-1
or polycystin-2. Polycystin-2 is a Ca 2+-permeable cation channel. Polycystin-1 is an integral …

Polycystin-2 is a predicted integral membrane protein with non-selective cation channel
activity. The protein is encoded by the PKD2 gene, which is mutated in~ 15% of patients with …