PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein

Toshio Mochizuki, Guanqing Wu, Tomohito Hayashi, Stavroulla L. Xenophontos, Barbera Veldhuisen, Jasper J. Saris, David M. Reynolds, Yiqiang Cai, Patricia A. Gabow, Alkis Pierides, William J. Kimberling, Martijn H. Breuning, C. Constantinou Deltas, Dorien J.M. Peters, Stefan Somlo

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Abstract

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.

Original languageEnglish (US)
Pages (from-to)1339-1342
Number of pages4
JournalScience
Volume272
Issue number5266
DOIs
StatePublished - May 31 1996

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Cite this

Mochizuki, T., Wu, G., Hayashi, T., Xenophontos, S. L., Veldhuisen, B., Saris, J. J., Reynolds, D. M., Cai, Y., Gabow, P. A., Pierides, A., Kimberling, W. J., Breuning, M. H., Deltas, C. C., Peters, D. J. M., & Somlo, S. (1996). PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science, 272(5266), 1339-1342. https://doi.org/10.1126/science.272.5266.1339