| Property | Value | [1]
|----------|-------| [2]
| Gene Symbol | DYT1 / TOR1A |
| Full Name | Torsin Family 1 Member A |
| Chromosomal Location | 9q34.2 |
| NCBI Gene ID | 1896 |
| OMIM ID | 605204 |
| Ensembl ID | ENSG00000136827 |
| UniProt ID | Q9UHD8 |
| Encoded Protein | Torsin-1A |
| Associated Diseases | Early-Onset Generalized Dystonia (DYT1), Early-Onset Paroxysmal Dyskinesia |
DYT1 (also known as TOR1A) is a gene that encodes torsin-1A, an AAA+ ATPase family protein primarily localized to the endoplasmic reticulum and nuclear envelope. Mutations in DYT1 cause early-onset generalized dystonia (DYT1 dystonia), the most common form of inherited dystonia. The primary pathogenic mutation is a ΔE302/303 deletion in the torsin-1A protein, which results in loss of ATPase function and impaired ER protein quality control. DYT1 is expressed throughout the brain, with highest expression in the basal ganglia, cerebellum, and cortex. The gene follows an autosomal dominant inheritance pattern with reduced penetrance (~30%).
DYT1 (also known as TOR1A) encodes torsin-1A, an AAA+ ATPase family member located primarily in the endoplasmic reticulum and nuclear envelope. Torsin-1A is involved in multiple cellular processes critical to neuronal function.
Key normal physiological functions include:
The most common form of inherited dystonia, characterized by involuntary muscle contractions leading to twisting postures:
Primary mutation: ΔE302/303 (glutamic acid deletion) in torsin-1A
Pathogenic mechanisms:
Some TOR1A mutations cause episodic movement disorders:
DYT1 is widely expressed in the brain with highest levels in:
Expression is neuronal-specific, with low expression in glia.
Klein et al. TOR1A mutations in dystonia (1999). 1999. ↩︎
Goodchild et al. ER stress and dystonia (2011). 2011. ↩︎