PKD2 , a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
- 31 May 1996
- journal article
- other
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 272 (5266) , 1339-1342
- https://doi.org/10.1126/science.272.5266.1339
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.Keywords
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