TorsinA: movement at many levels

Neuron. 2001 Jul 19;31(1):9-12. doi: 10.1016/s0896-6273(01)00350-6.

Abstract

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.

Publication types

  • Review

MeSH terms

  • Animals
  • Carrier Proteins / chemistry
  • Carrier Proteins / genetics*
  • Carrier Proteins / metabolism
  • Dystonia Musculorum Deformans / genetics*
  • Dystonia Musculorum Deformans / physiopathology
  • Humans
  • Models, Molecular
  • Molecular Chaperones*
  • Multigene Family
  • Phylogeny
  • Protein Conformation
  • Sequence Deletion

Substances

  • Carrier Proteins
  • Molecular Chaperones
  • TOR1A protein, human