TorsinA: movement at many levels.
TorsinA is the causative protein in the human neurologic disease early onset torsin dystonia, a movement disorder involving dysfunction in the basal ganglia without apparent neurodegeneration. Most cases result from a dominantly acting three-base pair deletion in the TOR1A gene causing loss of a glutamic acid near the carboxyl terminus of torsinA. Torsins are members of the AAA(+) superfamily of ATPases and are present in all multicellular organisms. Initial studies suggest that torsinA is an ER protein involved in chaperone functions and/or membrane movement.
Breakefield
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Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital, Harvard Medical School, 02129, Boston, MA, USA. breakefield@helix.mgh.harvard.edu
Kamm
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Hanson
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D000818:Animals; D002352:Carrier Proteins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D004422:Dystonia Musculorum Deformans / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D008958:Models, Molecular; D018832:Molecular Chaperones; D005810:Multigene Family; D010802:Phylogeny; D011487:Protein Conformation; D017384:Sequence Deletion
D002352:Carrier Proteins; D018832:Molecular Chaperones; C108175:TOR1A protein, human