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Beschreibung

TorsinA can regulate the cellular trafficking of the dopamine transporter, as well as other polytopic membrane-bound proteins, including G protein-coupled receptors, transporters, and ion channels. TorsinA is found in the dopamine neurons that are lost in PD, and is a component of Lewy bodies. in addition, a genetic defect in TorsinA underlies Torsion dystonia, a disease characterized by painful muscle contractions that result in uncontrollable distortions.