PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
Date
1996Author
Mochizuki, ToshioWu, G.
Hayashi, Tomohito
Xenophontos, Stavroulla L.
Veldhuisen, B.
Saris, J. J.
Reynolds, D. M.
Cai, Y.
Gabow, P. A.
Pierides, Alkis M.
Kimberling, W. J.
Breuning, M. H.
Constantinou-Deltas, Constantinos D.
Peters, D. J. M.
Somlo, Stefan
Source
ScienceVolume
272Pages
1339-1342Google Scholar check
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Show full item recordAbstract
A second gene for autosomal dominant polycystic kidney disease was identified by positional cloning. Nonsense mutations in this gene (PKD2) segregated with the disease in three PKD2 families. The predicted 968-amino acid sequence of the PKD2 gene product has six transmembrane spans with intracellular amino- and carboxyl-termini. The PKD2 protein has amino acid similarity with PKD1, the Caenorhabditis elegans homolog of PKD1, and the family of voltage-activated calcium (and sodium) channels, and it contains a potential calcium-binding domain.