| Literature DB >> 8650545 |
T Mochizuki1, G Wu, T Hayashi, S L Xenophontos, B Veldhuisen, J J Saris, D M Reynolds, Y Cai, P A Gabow, A Pierides, W J Kimberling, M H Breuning, C C Deltas, D J Peters, S Somlo.
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.Entities:
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Year: 1996 PMID： 8650545 DOI： 10.1126/science.272.5266.1339
Source DB: PubMed Journal: Science ISSN： 0036-8075 Impact factor: 47.728