CIDeRplusGeneral Information:
| Id: | 13,248 (click here to show other Interactions for entry) |
| Diseases: |
Cardiomyopathy, hypertrophic
Ciliopathy Renal |
| Homo sapiens | |
| article | |
| Reference: | Cornec-Le Gall E et al.(2018) Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease Am J Hum Genet 102: 832-844 [PMID: 29706351] |
Interaction Information:
| Comment | Characterization of DNAJB11-null cells and kidney samples from affected individuals revealed a pathogenesis associated with maturation and trafficking defects involving the ADPKD protein, PC1, and ADTKD proteins, such as UMOD. |
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Formal Description Interaction-ID: 126181 |
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