Torsin A Interacting Protein 2 (TOR1AIP2)

TorsinA is the causative protein in early onset torsion dystonia, also known as DYT1 dystonia or Oppenheim’s Disease. The disease is characterized by severe and generalized abnormalities in motor control that typically begin during childhood. A candidate-based screen to determine whether any of a set of known NE proteins associate with torsinA uncovered an interaction with the inner nuclear membrane protein LAP1 (also known as TOR1AIP1) and a related protein in the ER, LULL1 (also known as TOR1AIP2 or NET9). The related transmembrane proteins LULL1 and LAP1 are prominent binding partners for torsinA in U2OS cells.Impaired interaction of torsinA with LULL1 and/or LAP1 may thus contribute to the development of dystonia.