DNAJA3

Chr 16

DnaJ heat shock protein family (Hsp40) member A3

Also known as: HCA57, TID1, Tid1-L, Tid1-S, hTID-1

NCBI Gene: 9093 ENSG00000103423 UniProt: Q96EY1

This gene encodes a mitochondrial-localized DNAJ/Hsp40 co-chaperone protein that stimulates Hsp70 ATPase activity and modulates apoptotic signaling pathways, including cytochrome C release and caspase 3 activation. 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 is highly constrained against loss-of-function variation (LOEUF 0.59), reflecting its essential cellular functions.

ResearchSummary from RefSeq, UniProt

This gene encodes a member of the DNAJ/Hsp40 protein family. DNAJ/Hsp40 proteins stimulate the ATPase activity of Hsp70 chaperones and play critical roles in protein folding, degradation, and multimeric complex assembly. The encoded protein is localized to mitochondria and mediates several cellular processes including proliferation, survival and apoptotic signal transduction. The encoded protein also plays a critical role in tumor suppression through interactions with oncogenic proteins including ErbB2 and the p53 tumor suppressor protein. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2011]

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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