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]
Function
ATP binding; ATPase activity; cytoskeletal protein binding; kinesin binding; protein binding; unfolded protein binding;
Synonyms
TOR1A; torsin family 1, member A (torsin A); DQ2; DYT1; torsin-1A; torsin ATPase 1; dystonia 1 protein; torsin family 1 member A; dystonia 1, torsion (autosomal dominant; torsin A);
Citations
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