DNAJA3
Chr 16DnaJ heat shock protein family (Hsp40) member A3
Also known as: HCA57, TID1, Tid1-L, Tid1-S, hTID-1
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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Tolerant to missense variation
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DNAJA3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools