Protein Name torsin family 1 member A
Organism Homo sapiens
Gene ID 1861
Gene Symbol


UniProt O14656 (TOR1A_HUMAN), B3KPA1 (B3KPA1_HUMAN)
Relationships Total Number of functionally related compound(s) : 82
Total Number of Articles : 188

torsin family 1 member A

Gene Summary

The protein encoded by this gene is a member of the AAA family of adenosine triphosphatases (ATPases), is related to the Clp protease/heat shock family and is expressed prominently in the substantia nigra pars compacta. Mutations in this gene result in the autosomal dominant disorder, torsion dystonia 1. [provided by RefSeq, Jul 2008]

  • torsin-1A
  • dystonia 1 protein
  • dystonia 1, torsion (autosomal dominant; torsin A)
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