Polycystin-1, the product of the PKD1 gene, is a membrane-bound multidomain protein with
a unique structure and a molecular weight of≈ 460 kD. The purpose of this study is to …

The PKD1 protein, polycystin-1, is a large transmembrane protein of uncertain function and
topology. To study the putative functions of polycystin-1, conditionally immortalized kidney …

Abstract Characterization of the polycystic kidney disease 1 (PKD1) gene has been
complicated by genomic rearrangements on chromosome 16. We have used an exon linking …

Background In a majority of cases, autosomal dominant polycystic kidney disease (ADPKD)
is caused by mutations within a putative open reading frame of the PKD1 gene. The …

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 …

The functions of the two proteins defective in autosomal dominant polycystic kidney disease,
polycystin-1 and polycystin-2, have not been fully clarified, but it has been hypothesized that …

Studies of the nature and expression of the PKD-1 gene product, polycystin, have been
complicated by duplication of the PKD-1 gene, the low expression of the PKD-1 gene in …

The PKD1 and PKD2 genes are the genes that are mutated in patients suffering from
autosomal dominant polycystic kidney disease. The human PKD2 gene codes for a 968 …

PKD2 is one of the two genes mutated in ADPKD (autosomal-dominant polycystic kidney
disease). The protein product of PKD2, polycystin-2, functions as a non-selective cation …

PKD1 is the major locus of the common genetic disorder autosomal dominant polycystic
kidney disease (ADPKD). Analysis of the predicted protein sequence of the human PKD1 …