| First Author | Mochizuki T | Year | 1996 |
| Journal | Science | Volume | 272 |
| Issue | 5266 | Pages | 1339-42 |
| PubMed ID | 8650545 | Mgi Jnum | J:48348 |
| Mgi Id | MGI:1267237 | Doi | 10.1126/science.272.5266.1339 |
| Citation | Mochizuki T, et al. (1996) PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein. Science 272(5266):1339-42 |
| abstractText | 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. |
