靶标:
TOR1A
产品别名:
AMC5; DQ2; DYT1; TOR1A; torsin family 1 member A; torsin family 1 member A; torsin-1A; dystonia 1 protein; dystonia 1, torsion (autosomal dominant; torsin A); torsin A; torsin ATPase 1; torsin ATPase-1A; 扭转蛋白A; 耐扭蛋白1A(TOR1A);
背景信息:
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.