CIDeRplusGeneral Information:
| Id: | 13,391 |
| Diseases: |
Ciliopathy
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| Homo sapiens | |
| article | |
| Reference: | Mochizuki T et al.(1996) PKD2, a gene for polycystic kidney disease that encodes an integral membrane protein Science 272: 1339-1342 [PMID: 8650545] |
Interaction Information:
| Comment | 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. |
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Formal Description Interaction-ID: 126174 |
gene/protein affects_activity of |