DNAJB5

Chr 9

DnaJ heat shock protein family (Hsp40) member B5

Also known as: Hsc40

NCBI Gene: 25822 ENSG00000137094 UniProt: O75953

The protein is a DNAJ heat shock protein 40 family co-chaperone that contains an N-terminal DNAJ domain and C-terminal substrate binding domain, and functions as part of a multi-protein complex that negatively regulates cardiac hypertrophy. Mutations cause autosomal recessive spinal muscular atrophy with congenital bone fractures, a severe early-onset neuromuscular disorder affecting motor neurons and bone development. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.587), consistent with its role in this recessive condition.

ResearchSummary from RefSeq

This gene encodes a member of the DNAJ heat shock protein 40 family of co-chaperone proteins. The encoded protein contains an N-terminal DNAJ domain and a C-terminal substrate binding domain but lacks the cysteine-rich domain found in other DNAJ family members. In mice, a multi-protein complex containing this protein, thioredoxin 1, and histone deacetylase 4, serves as a master negative regulator of cardiac hypertrophy. [provided by RefSeq, Mar 2017]

ResearchGenerating clinical summary…

Clinical highlights

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)

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P/LP submissions

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P/LP missense

0.59

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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