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DYT4
ADdystonia 4, torsion (autosomal dominant)
The protein function for DYT4 is not well characterized, as this locus has been mapped but the causative gene has not been definitively identified. Mutations cause autosomal dominant torsion dystonia with childhood to adolescent onset, typically presenting as focal dystonia that may generalize. This form of dystonia shows variable expressivity and reduced penetrance within affected families.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DYT4?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DYT4 · 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