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.
Immunogen Information
Immunogen
Fusion protein of human TOR1A
Swissprot
O14656
Synonyms
DQ2Dystonia 1Dystonia 1 proteinDystonia 1 torsionDyt1TOR1ATOR1ATorsin 1ATorsin ATorsin family 1 member ATorsin family 1member A (torsin A)Torsin-1A