PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.

PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein.

Science (New York, N.Y.) (1996-05-31)

T Mochizuki, 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

PMID8650545

RESUMEN

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.