PARK7
Chr 1ARParkinsonism associated deglycase
Also known as: DJ-1, DJ1, GATD2, HEL-S-67p
The protein functions as a redox-sensitive chaperone and protease that protects neurons against oxidative stress and cell death, and maintains correct mitochondrial morphology and function. Mutations cause autosomal recessive early-onset Parkinson disease 7, typically manifesting in childhood or young adulthood. The gene shows moderate constraint to loss-of-function variants (pLI 0.75, LOEUF 0.53), consistent with its essential neuroprotective role.
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
214 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 2 | 6 | 46 | 0 | 54 |
Likely Pathogenic | 3 | 3 | 1 | 0 | 7 |
VUS | 3 | 44 | 15 | 0 | 62 |
Likely Benign | 0 | 3 | 22 | 10 | 35 |
Benign | 0 | 0 | 41 | 0 | 41 |
Conflicting | — | 1 | |||
| Total | 8 | 56 | 125 | 10 | 200 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PARK7 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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