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 family 1, member A (Tor1a) 蛋白 torsin family 1 member A (TOR1A) 蛋白 torsin family 1, member A (torsin A) (Tor1a) 蛋白 DQ2 蛋白 Dyt1 蛋白 DYT1 蛋白 torsinA 蛋白