DNAJC5

Chr 20AD

DnaJ heat shock protein family (Hsp40) member C5

Also known as: CLN4, CLN4B, CSP, DNAJC5A, mir-941-2, mir-941-3, mir-941-4, mir-941-5

NCBI Gene: 80331 ENSG00000101152 UniProt: Q9H3Z4 OMIM: 611203

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.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene is a member of the J protein family. J proteins function in many cellular processes by regulating the ATPase activity of 70 kDa heat shock proteins. The encoded protein plays a role in membrane trafficking and protein folding, and has been shown to have anti-neurodegenerative properties. The encoded protein is known to play a role in cystic fibrosis and Huntington's disease. A pseudogene of this gene is located on the short arm of chromosome 8. [provided by RefSeq, Nov 2010]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Ceroid lipofuscinosis, neuronal, 4 (Kufs type), autosomal dominantMIM #162350

Clinical highlights

Gene-disease validity (ClinGen)

adult neuronal ceroid lipofuscinosis · ADModerateconsider for supplementary testing

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.48

LOEUF

GOF

Mechanism· predicted

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GeneReview available — DNAJC5