|Description:||Mouse monoclonal antibody to TOR1A.|
|Dilutions:||WB 1:500 - 1:2000|
|Immunogen:||A synthetic peptide of human TOR1A|
|Formulation:||PBS with 0.02% sodium azide, 50% glycerol, pH7.3.|
|Storage:||Store at 4℃. Avoid freeze / thaw cycles.|
Target (Information from UniProt)
|Function:||Protein with chaperone functions important for the control of protein folding, processing, stability and localization as well as for the reduction of misfolded protein aggregates. Involved in the regulation of synaptic vesicle recycling, controls STON2 protein stability in collaboration with the COP9 signalosome complex (CSN). In the nucleus, may link the cytoskeleton with the nuclear envelope, this mechanism seems to be crucial for the control of nuclear polarity, cell movement and, specifically in neurons, nuclear envelope integrity. Participates in the cellular trafficking and may regulate the subcellular location of multipass membrane proteins such as the dopamine transporter SLC6A3, leading to the modulation of dopamine neurotransmission. In the endoplasmic reticulum, plays a role in the quality control of protein folding by increasing clearance of misfolded proteins such as SGCE variants or holding them in an intermediate state for proper refolding. May have a redundant function with TOR1B in non-neural tissues.|
|Tissue Specificity:||Widely expressed. Highest levels in kidney and liver. 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 highly expressed in the spinal cord.|
|Involvement in Disease:||Dystonia 1, torsion, autosomal dominant: A primary torsion dystonia, and the most common and severe form. Dystonia is defined by the presence of sustained involuntary muscle contractions, often leading to abnormal postures. Dystonia type 1 is characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body, in the absence of other neurological symptoms. Typically, symptoms develop first in an arm or leg in middle to late childhood and progress in approximately 30% of patients to other body regions (generalized dystonia) within about five years. 'Torsion' refers to the twisting nature of body movements observed in DYT1, often affecting the trunk. Distribution and severity of symptoms vary widely between affected individuals, ranging from mild focal dystonia to severe generalized dystonia, even within families.|
|Sequence Similarities:||Belongs to the ClpA/ClpB family. Torsin subfamily.|
|Cellular Location:||Endoplasmic reticulum lumen. Nucleus membrane. Cell projection > Growth cone. Cytoplasmic vesicle membrane. Cytoplasmic vesicle > Secretory vesicle. Cytoplasmic vesicle > Secretory vesicle > Synaptic vesicle. Cytoplasm > Cytoskeleton.
Upon oxidative stress, redistributes to protusions from the cell surface (By similarity). Peripherally associated with the inner face of the ER membrane, probably mediated by the interaction with TOR1AIP1. The association with nucleus membrane is mediated by the interaction with TOR1AIP2.
Dystonia 1 Antibody
Dystonia 1 protein Antibody
Dystonia 1 torsion Antibody
Torsin 1A Antibody
Torsin A Antibody
Torsin family 1 member A Antibody
Torsin family 1, member A (torsin A) Antibody
Western blot analysis of extracts of various cell lines, using TOR1A antibody.