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

    Research output: Contribution to journalArticlepeer-review

    1233 Scopus citations

    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

    ASJC Scopus subject areas

    • General

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