Torsin-1A, Dystonia 1 protein, Torsin ATPase-1A, 364-, Torsin family 1 member A, TOR1A, DQ2, DYT1, TA, TORA
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].