Structural motifs of the PKD1 protein

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Structural motifs of the PKD1 protein.

The complete sequence of the polycystic kidney disease gene (PKD1) and its transcript have been described. The predicted protein is not a member of a previously described gene family, but contains several structural motifs that are present in proteins of known function. Most of these domains are present in the extracellular parts of proteins involved in interactions with other proteins and carb...

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Autosomal dominant polycystic kidney disease (ADPKD) affects over 500 000 Americans. Eighty-five percent of these patients have mutations in the PKD1 gene. The focal nature of cyst formation has recently been attributed to innate instability in the PKD1 gene. Intron 21 of this gene contains the largest polypurine. polypyrimidine tract (2.5 kb) identified to date in the human genome. Polypurine....

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ژورنال

عنوان ژورنال: Nephrology Dialysis Transplantation

سال: 1996

ISSN: 0931-0509,1460-2385

DOI: 10.1093/ndt/11.supp6.2