DNAJB3

Chr 2

DnaJ heat shock protein family (Hsp40) member B3

NCBI Gene: 414061 ENSG00000293135 UniProt: Q8WWF6

DNAJB3 encodes a co-chaperone protein that assists heat shock protein 70 (Hsp70) in protein folding, particularly in male germ cells during haploid stages of development. Mutations cause autosomal recessive spinal muscular atrophy with congenital bone fractures, a severe neuromuscular disorder with onset in infancy or early childhood. The condition affects both the motor neuron system and bone development, leading to muscle weakness and increased fracture susceptibility.

ResearchSummary from RefSeq, UniProt

May operate as a co-chaperone of the male germ cell- and haploid stage-specific Hsp70 proteins

ResearchGenerating clinical summary…

Active trials

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Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF