DNAJB1

Chr 19

DnaJ heat shock protein family (Hsp40) member B1

Also known as: HSPF1, Hdj1, Hsp40, RSPH16B, Sis1

NCBI Gene: 3337 ENSG00000132002 UniProt: P25685 OMIM: 604572

The protein is a molecular chaperone that stimulates HSP70 ATPase activity to promote proper protein folding and prevent protein aggregation. Mutations cause neurodevelopmental disorders with intellectual disability, seizures, and movement abnormalities, following an autosomal dominant inheritance pattern. The gene shows tolerance to loss-of-function variants (low constraint), suggesting the pathogenic variants may work through alternative mechanisms.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

This gene encodes a member of the DnaJ or Hsp40 (heat shock protein 40 kD) family of proteins. DNAJ family members are characterized by a highly conserved amino acid stretch called the 'J-domain' and function as one of the two major classes of molecular chaperones involved in a wide range of cellular events, such as protein folding and oligomeric protein complex assembly. The encoded protein is a molecular chaperone that stimulates the ATPase activity of Hsp70 heat-shock proteins in order to promote protein folding and prevent misfolded protein aggregation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

GeneReviews OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.85

LOEUF

Mechanism· predicted

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GeneReview available — DNAJB1