General Information:

Id: 13,248
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 DNAJB11 Pro54Arg mutation was associated with Polycystic kidney disease 6 with or without polycystic liver disease.
Formal Description
Interaction-ID: 125489
Comment DNAJB11 c.166_167insTT (p.Arg56fs) was associated with hypertrophic cardiomyopathy in one patient with Polycystic kidney disease 6 .
Formal Description
Interaction-ID: 125490

gene/protein

DNAJB11

affects_activity of

disease

Cardiomyopathy, hypertrophic

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.
Formal Description
Interaction-ID: 126181

gene/protein

DNAJB11

affects_activity of

gene/protein

PKD1

via impaired maturation of PKD1
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.
Formal Description
Interaction-ID: 126182

gene/protein

DNAJB11

affects_activity of

gene/protein

UMOD