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.
应用类型
WB, IHC
免疫原
Recombinant fusion protein of human TorsinA/TOR1A(NP_000104.1).
