| Gene Symbol | DYT1 / TOR1A |
| Full Name | Torsin Family 1 Member A |
| Chromosome | 9q34.2 |
| Function | DYT1 (also known as TOR1A) encodes torsin-1A, an AAA+ ATPase family member located primarily in the endoplasmic reticulum and nuclear envelope. |
| Primary Expression | the brain with highest levels in: - Basal ganglia (caudate nucleus, putamen) - Cerebellum (Purkinje cells) - Cortex (layers II-III, V) - [Hippocampus] |
| Subcellular Localization | the endoplasmic reticulum and nuclear envelope. Mutations in DYT1 cause early-onset generalized dystonia (DYT1 dystonia) |
| UniProt ID | Q9UHD8 |
| NCBI Gene ID | 1896 |
| Ensembl ID | ENSG00000136827 |
| OMIM | 605204 |
| Neurotransmitter release | Modulates dopamine release in the striatum |
| Cytoskeletal organization | Interacts with the actin cytoskeleton |
| Protein quality control | Involved in ER-associated degradation (ERAD) |
| Axonal transport | Regulates microtubule-based vesicle trafficking |
| Synaptic vesicle cycling | Important for synaptic vesicle recycling |
| Associated Diseases | neurodegeneration |
| Databases | GeneCardsHPASTRING |
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