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. Author manuscript; available in PMC: 2011 Mar 1.
Published in final edited form as: Adv Chronic Kidney Dis. 2010 Mar;17(2):118–130. doi: 10.1053/j.ackd.2010.01.002

Table 1.

Summary of ADPKD gene and protein characteristics.

PKD1 PKD2
Mutations in ADPKD families 85% 15%
Mean age of onset ESRD 53 years 69 years
Gene characteristics Chromosome 16q13.3
46 exons
gene size, ~45 kb
spliced transcript, ~12.9 kb		 Chromosome 4q21–23
15 exons
gene size, ~50 kb
spliced transcript, ~3.5 kb
Protein characteristics Polycystin 1 (PC1)
4302 amino acids
11 transmembrane domains
Receptor-like protein
Undergoes proteolytic cleavage		 Polycystin 2 (PC2; TRPP2)
968 amino acids
6 transmemebrane domains
Homology to TRP channels
Subcellular localization Cilia, cell junctions, apical and basolateral plasma membrane Cilia, endoplasmic reticulum, plasma membrane
Function Receptor Cation channel