TorsinA: Movement at many levels

TorsinA is the causative protein in the human neurologic disease early onse t torsin dystonia, a movement disorder involving dysfunction in the basal g anglia without apparent neurodegeneration. Most cases result from a dominan tly acting three-base pair deletion in the TOR1A gene causing loss of a glu tamic acid near the carboxyl terminus of torsinA. Torsins are members of th e AAA+ superfamily of ATPases and are present in all multicellular organism s. Initial studies suggest that torsinA is an ER protein involved in chaper one functions and/or membrane movement.