Torsin-1A (TOR1A)

Torsin-1A is an AAA+ ATPase chaperone protein predominantly found in the endoplasmic reticulum and nuclear envelope, encoded by the TOR1A gene on human chromosome 9[1][2][3][4][5]. It is involved in protein folding and processing, quality control of misfolded proteins, regulation of synaptic vesicle trafficking, and maintenance of nuclear envelope integrity, particularly in neurons[2][3][5]. Mutations, most notably the ΔGAG deletion, in TOR1A cause early-onset isolated dystonia (DYT1), a neurological disorder characterized by involuntary muscle contractions and abnormal movements[1][2][3]. Torsin-1A is especially important for neuronal function in dopamine-producing regions such as the substantia nigra[3]. While central to inherited dystonias, interactions with drugs and biomarker usage remain unclear. The gene product is a potential therapeutic target for neurogenetic movement disorders, but disruption of its activity risks exacerbating neurodegeneration or movement abnormalities[2][3].

Other names

Dystonia 1 proteinDYT1DQ2Torsin family 1 member AtorsinAtorsin-1ATATORADystonia 1Torsion (autosomal dominant; torsin A)Torsin ATPase-1AAMC5TOR1A_HUMAN