antibody

TOR1A Antibody

MBS2526869

0.06 mL

195 USD

polyclonal

rabbit

nonconjugated

human, mouse, rat

western blot, immunohistochemistry

Antibody

TOR1A Antibody

TOR1A

DQ2; DYT1; TorsinA

torsin-1A; Torsin-1A; torsin-1A; dystonia 1 protein; dystonia 1, torsion (autosomal dominant; torsin A); torsin ATPase 1; torsin ATPase-1A; torsin family 1 member A; torsin family 1, member A (torsin A); Dystonia 1 protein; Torsin ATPase-1A (EC:3.6.4.-); Torsin family 1 member A

TOR1A

TOR1A; TOR1A; DQ2; DYT1; DQ2; DYT1; TA; TORA

TOR1A_HUMAN

Polyclonal

IgG

Rabbit

Human, Mouse, Rat

332

Antigen affinity purification

1mg/mL

Store at -20 degree C (regular) and -80 degree C (long term). Avoid freeze / thaw cycles.

Western Blot (WB), Immunohistochemistry (IHC)

WB (1:500-1:2000); IHC (1:50-1:200); IF (1:50-1:200)

Immunogen: Recombinant protein of human TOR1A. Observed Molecular Weight: 38kDa

Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3

The neurological condition Dystonia is associated with sustained muscle contractions and abnormal posturing (1). TorsinA, torsinB, torp2A and torp3A belong to the family of ATPases associated with cellular activites (AAA+) and mutations in torsinA cause early onset dystonia (2). TorsinA has been shown to suppress intracellular protein aggregation in C. elegans and possesses chaperon activity. Interestingly, torsinA is highly expressed in dopaminergic neurons and associates with alpha-synuclein in Lewy bodies, which pathologically characterize Parkinson's Disease (3-5).

4557541

NP_000104.1

NM_000113.2

22,135 Da

Alpha-synuclein Signaling Pathway (137913)

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. [provided by RefSeq, Jul 2008]

TOR1A: 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 nesprin-3/C14orf49, leaving nuclear pores and SUN1 unchanged. May form homohexamers. Interacts with TOR1AIP1 and TOR1AIP2. Interacts with KLHL14, preferentially when ATP-free. 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. Belongs to the clpA/clpB family. Torsin subfamily. 2 isoforms of the human protein are produced by alternative splicing. Protein type: Secreted; Secreted, signal peptide. Chromosomal Location of Human Ortholog: 9q34. Cellular Component: synaptic vesicle; nuclear membrane; transport vesicle; cytoskeleton; growth cone; cytoplasmic vesicle membrane; intracellular membrane-bound organelle; membrane; endoplasmic reticulum lumen; nuclear envelope; cell junction; secretory granule. Molecular Function: protein binding; kinesin binding; ATPase activity; unfolded protein binding; cytoskeletal protein binding; misfolded protein binding; ATP binding. Biological Process: protein deneddylation; chaperone cofactor-dependent protein folding; organelle organization and biogenesis; regulation of dopamine uptake; synaptic vesicle transport; intermediate filament cytoskeleton organization and biogenesis; response to oxidative stress; cell adhesion; nuclear membrane organization and biogenesis; neurite development; protein homooligomerization. Disease: Dystonia 1, Torsion, Autosomal Dominant

0.06 mL

195 USD

0.12 mL

270

0.2 mL

435