Abstract
It is 20 years since the identification of PKD1, the major gene mutated in autosomal dominant polycystic kidney disease (ADPKD), followed closely by the cloning of PKD2. These major breakthroughs have led in turn to a period of intense investigation into the function of the two proteins encoded, polycystin-1 and polycystin-2, and how defects in either protein lead to cyst formation and nonrenal phenotypes. In this review, we summarize the major findings in this area and present a current model of how the polycystin proteins function in health and disease.
Publication types
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
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Review
MeSH terms
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Animals
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Genetic Predisposition to Disease
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Humans
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Kidney / metabolism*
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Kidney / pathology
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Kidney / physiopathology
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Mutation
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Phenotype
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Polycystic Kidney, Autosomal Dominant / diagnosis
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Polycystic Kidney, Autosomal Dominant / genetics
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Polycystic Kidney, Autosomal Dominant / metabolism*
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Polycystic Kidney, Autosomal Dominant / physiopathology
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Protein Conformation
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Protein Processing, Post-Translational
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Protein Transport
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Signal Transduction
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Structure-Activity Relationship
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TRPP Cation Channels / chemistry
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TRPP Cation Channels / genetics
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TRPP Cation Channels / metabolism*
Substances
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TRPP Cation Channels
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polycystic kidney disease 1 protein
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polycystic kidney disease 2 protein