TOR1A, DQ2, DYT1, Torsin-1A, Torsin family 1 member A;Dystonia 1 protein
Key Feature
Clonality
Monoclonal
Clone Number
EP2569Y
Host Species
Rabbit
Tested Applications
WB
WB:1:500~1000
Species Reactivity
Human
Concentration
1mg/ml
Target Information
Gene Synonyms
DQ2 DYT1
Alternative Names
TOR1A DQ2 DYT1 Torsin-1A Torsin family 1 member A Dystonia 1 protein
Molecular Weight(MW)
37809 Da
Function
May serve as a molecular chaperone assisting in the proper folding of secreted and/or membrane proteins. In the nucleus, displaces the nuclear membrane proteins SUN2, SYNE2 and SYNE3, leaving nuclear pores and SUN1 unchanged
Tissue Specificity
Widely expressed. Highest levels in kidney and liver. Not detected in spleen. In the brain, high levels found in the dopaminergic neurons of the substantia nigra pars compacta, as well as in the neocortex, hippocampus and cerebellum. Also high expression in the spinal cord
Cellular Localization
Endoplasmic reticulum lumen. Nucleus membrane. Note=Mainly located in the lumen of the endoplasmic reticulum. The association with nuclear envelope is mediated by the interaction with TOR1AIP2. The Glu-303 del variant is lumenally-oriented in discrete large spheroid intracellular structures rather than in the endoplasmic reticulum