DNAJA1
Chr 9DnaJ heat shock protein family (Hsp40) member A1
Also known as: DJ-2, DjA1, HDJ2, HSDJ, HSJ-2, HSJ2, HSPF4, NEDD7
DNAJA1 encodes a heat shock protein 70 co-chaperone that stimulates ATP hydrolysis and facilitates protein transport into mitochondria while regulating cellular apoptosis pathways. Mutations cause autosomal recessive spinal muscular atrophy with progressive myoclonic epilepsy, a neurodegenerative disorder affecting both motor neurons and the central nervous system. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.542), suggesting some tolerance to heterozygous loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
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
DNAJA1 · 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