THAP1
Chr 8ADTHAP domain containing 1
Also known as: DYT6
The THAP1 protein contains a conserved DNA-binding domain and functions as a proapoptotic factor that colocalizes with apoptosis response proteins in nuclear bodies. Mutations cause dystonia 6, a form of torsion dystonia, inherited in an autosomal dominant pattern. The gene is highly intolerant to loss-of-function mutations, suggesting haploinsufficiency as the likely disease mechanism.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Literature Evidence
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
THAP1 · 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