DNAJC5 encodes DnaJ heat shock protein family (Hsp40) member C5 (198 aa). Acts as a general chaperone in regulated exocytosis. Acts as a co-chaperone for the SNARE protein SNAP-25. Involved in the calcium-mediated control of a late stage of exocytosis. Highest expression in Brain Cerebellar Hemisphere (164.6 TPM) and Brain Cerebellum (151.0 TPM).

Ceroid lipofuscinosis, neuronal, 4 (Kufs type) is associated with mutations in the DNAJC5 gene on chromosome 20.

DNAJC5 is classified as a druggable target with score 0.0.

Genetic testing for DNAJC5 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for ceroid lipofuscinosis, neuronal, 4 (Kufs type) has been reported in the published literature.

Phenotype severity distribution: 5 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

146 publications have been identified in PubMed for ceroid lipofuscinosis, neuronal, 4 (Kufs type). Research spans Basic Science / Preclinical (32%), Case Report / Case Series (19%), and Review / Meta-Analysis (14%).

Recent Publications

• Kim WD (2026). [PMID: 42031177](https://pubmed.ncbi.nlm.nih.gov/42031177/). *Biochim Biophys Acta Mol Basis Dis*. [Basic Science / Preclinical]

• Simonati A (2026). [PMID: 40708162](https://pubmed.ncbi.nlm.nih.gov/40708162/). *Dev Med Child Neurol*. [Epidemiology / Natural History]

• Walus M (2026). [PMID: 42102651](https://pubmed.ncbi.nlm.nih.gov/42102651/). *Mol Genet Metab*. [Basic Science / Preclinical]

• Ziółkowska EA (2026). [PMID: 42034784](https://pubmed.ncbi.nlm.nih.gov/42034784/). *Sci Rep*. [Basic Science / Preclinical]

• Ziółkowska EA (2026). [PMID: 41977268](https://pubmed.ncbi.nlm.nih.gov/41977268/). *Int J Mol Sci*. [Gene Therapy / Novel Therapeutics]

• Liu K (2026). [PMID: 41986128](https://pubmed.ncbi.nlm.nih.gov/41986128/). *Zhonghua Yi Xue Za Zhi*. [Case Report / Case Series]

• Petersen M (2026). [PMID: 42175674](https://pubmed.ncbi.nlm.nih.gov/42175674/). *J Inherit Metab Dis*. [Clinical Trial Publication]

• Dutton AE (2026). [PMID: 40966007](https://pubmed.ncbi.nlm.nih.gov/40966007/). *J Child Neurol*. [Case Report / Case Series]

• Oliveira JA (2026). [PMID: 41160491](https://pubmed.ncbi.nlm.nih.gov/41160491/). *J Child Neurol*. [Review / Meta-Analysis]

• Chaoul V (2026). [PMID: 41827875](https://pubmed.ncbi.nlm.nih.gov/41827875/). *Cells*. [Basic Science / Preclinical]