|Other Names||Torsin-1A, Dystonia 1 protein, Torsin ATPase-1A, 364-, Torsin family 1 member A, TOR1A, DQ2, DYT1, TA, TORA|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Synonyms||DQ2, DYT1, TA, TORA|
|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.|
|Cellular Location||Endoplasmic reticulum lumen. Nucleus membrane; Peripheral membrane protein. Cell projection, growth cone. Cytoplasmic vesicle membrane Cytoplasmic vesicle, secretory vesicle. Cytoplasmic vesicle, secretory vesicle, synaptic vesicle. Cytoplasm, cytoskeleton. Note=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|
|Tissue Location||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.|
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The protein encoded by this gene is a member of the AAAfamily of adenosine triphosphatases (ATPases), is related to theClp protease/heat shock family and is expressed prominently in thesubstantia nigra pars compacta. Mutations in this gene result inthe autosomal dominant disorder, torsion dystonia 1. [provided byRefSeq].
Sharma, N., et al. Mov. Disord. 25(13):2183-2187(2010)Kaiser, F.J., et al. Ann. Neurol. 68(4):554-559(2010)Gavarini, S., et al. Ann. Neurol. 68(4):549-553(2010)Granata, A., et al. Eur. J. Neurol. 17 SUPPL 1, 81-87 (2010) :Warner, T.T., et al. Biochem. Soc. Trans. 38(2):452-456(2010)
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