DNAJC5
Chr 20ADDnaJ heat shock protein family (Hsp40) member C5
The encoded protein regulates 70 kDa heat shock protein ATPase activity and functions in membrane trafficking and protein folding. Mutations cause autosomal dominant neuronal ceroid lipofuscinosis type 4 (Kufs disease), an adult-onset neurodegenerative disorder characterized by progressive dementia and movement abnormalities. The pathogenic mechanism involves gain-of-function mutations that disrupt normal cellular protein homeostasis.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is gain-of-function.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DNAJC5 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools