TY - JOUR
T1 - PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein
AU - Mochizuki, Toshio
AU - Wu, Guanqing
AU - Hayashi, Tomohito
AU - Xenophontos, Stavroulla L.
AU - Veldhuisen, Barbera
AU - Saris, Jasper J.
AU - Reynolds, David M.
AU - Cai, Yiqiang
AU - Gabow, Patricia A.
AU - Pierides, Alkis
AU - Kimberling, William J.
AU - Breuning, Martijn H.
AU - Deltas, C. Constantinou
AU - Peters, Dorien J.M.
AU - Somlo, Stefan
PY - 1996/5/31
Y1 - 1996/5/31
N2 - 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.
AB - 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.
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U2 - 10.1126/science.272.5266.1339
DO - 10.1126/science.272.5266.1339
M3 - Article
C2 - 8650545
AN - SCOPUS:15844385078
SN - 0036-8075
VL - 272
SP - 1339
EP - 1342
JO - Science
JF - Science
IS - 5266
ER -