Background information
TorsinB is a 336 amino acid protein that localizes to the lumen of endoplasmic reticulum and belongs to the Torsin family. Expressed in a variety of tissues with particularly high levels in adult brain, TorsinB is thought to function as a molecular chaperone that assists in the conformational folding of membrane and secreted proteins. Via its ability to regulate protein folding, TorsinB plays a key role in postnatal developmental events and is essential for proper neurological development. TorsinB contains two PKC (protein kinase C) phosphorylations sites, one ATP binding domain and several conserved cysteines and shares 69% amino acid identity with TorsinA, a related family member. Defects in the gene encoding TorsinB are associated with torsion dystonia, an autosomal dominant neurological disorder that is characterized by debilitating muscle contractions throughout the body.
