Abcam, ab34540, Anti-Torsin A/DYT1 antibody

Size: 100µg
Rabbit Polyclonal Torsin A/DYT1 antibody. Suitable for WB, IHC-FoFr, ICC/IF and reacts with Mouse, Rat samples. Cited in 38 publications.
Key facts
Host species:Rabbit,
Clonality:Polyclonal,
Isotype:IgG,
Carrier free:No,
Reacts with:Mouse, Rat,
Applications:WB, ICC/IF, IHC-FoFrSee reactivity dataSee the reactivity data table below for information on validated species and application combinations.,
Immunogen:The exact immunogen used to generate this antibody is proprietary information.,
Specificity:The immunogen used to raise this antibody has 92% homology with the human Torsin A/DYT1 protein. Some customers have successfully used ab34540 in human tissue. Please contact Abcam Scientific Support for more information.

Properties and Storage Information:
Form-Liquid, Purification technique-Affinity purification Immunogen, Storage buffer-pH: 7.4Preservative: 0.02% Sodium azideConstituents: PBS, 1% BSA, Shipped at conditions-Blue Ice, Appropriate short-term storage duration-1-2 weeks, Appropriate short-term storage conditions-+4°C, Appropriate long-term storage conditions--20°C, Aliquoting information-Upon delivery aliquot, Storage information-Avoid freeze / thaw cycle

Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
Torsin A also known as DYT1 is an endoplasmic reticulum-based AAA+ ATPase protein. It has a molecular mass of approximately 37 kDa. Torsin A is widely expressed in the central nervous system particularly in neurons. As part of its mechanical function Torsin A plays an important role in ATP binding and hydrolysis which drive conformational changes required for its activities. It is associated with maintaining proper protein folding and quality control within the endoplasmic reticulum and its activity supports membrane trafficking processes.
Biological function summary
Torsin A participates in neuronal functions that ensure cellular homeostasis. It functions within the hetero-oligomeric complexes aiding in the assembly of cellular structures such as the nuclear envelope. Through its interaction with nuclear envelope proteins Torsin A contributes to the maintenance of nuclear integrity. This function helps to regulate the movement of lipids and proteins between the endoplasmic reticulum and other parts of the cell indicating its role in intracellular transport mechanisms.
Pathways
This protein contributes to the dysbindin-containing biogenesis of lysosome-related organelles complex 1 (BLOC-1) pathway important in cellular trafficking processes. Torsin A interacts with other AAA+ ATPases and is closely related to LULL1 (luminal domain-like LAP1) which is a partner protein involved in similar pathways. Its function connects to cholesterol biosynthesis pathways indicating its influence on lipid homeostasis in neurons.
Mutations in the TOR1A gene that encodes Torsin A cause early-onset torsion dystonia a movement disorder affecting muscle contractions and control. Similar to DYT1 dystonia alterations in Torsin A function have links to Parkinson's disease as both conditions involve disruptions in cellular signaling pathways in neurons. Torsin A has connections to other proteins implicated in these disorders like Parkin which participates in cellular quality control impacting the same neuronal pathways disrupted in these disorders.