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DYT1
Chr 9ADtorsin family 1 member A
Also known as: AMC5, DQ2, DYT1
The protein functions as an AAA family ATPase with chaperone activity, controlling protein folding, synaptic vesicle recycling, and nuclear envelope integrity, with prominent expression in the substantia nigra. Mutations cause autosomal dominant torsion dystonia with early onset (childhood to young adulthood), primarily affecting movement through disruption of basal ganglia circuits. This is a well-characterized dystonia gene with established clinical guidelines available through GeneReviews.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/DYT1?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
DYT1 · 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