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PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. 1996
T Mochizuki, and
G Wu, and
T Hayashi, and
S L Xenophontos, and
B Veldhuisen, and
J J Saris, and
D M Reynolds, and
Y Cai, and
P A Gabow, and
A Pierides, and
W J Kimberling, and
M H Breuning, and
C C Deltas, and
D J Peters, and
S Somlo
Renal Division, Department of Medicine and Molecular Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
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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