DNAJC6
Chr 1ARDnaJ heat shock protein family (Hsp40) member C6
Also known as: DJC6, PARK19
DNAJC6 encodes auxilin, a co-chaperone protein that recruits HSC70 to promote ATP-dependent clathrin disassembly from coated vesicles and participates in clathrin-mediated endocytosis and synaptic vesicle recycling. Biallelic mutations cause juvenile-onset Parkinson disease 19a and early-onset Parkinson disease 19b with autosomal recessive inheritance. The gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.22), indicating that complete loss of function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DNAJC6 · 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