Torsin A (Torsin family 1 member A, Dystonia 1 protein)

orsinA is an AAA(+) protein that has been demonstrated as an endoplasmic reticulum (ER) chaperone protein involved in a sensitive reporter system for quantitation of processing through the secretory pathway. It is predominantly located in the lumen of the ER and nuclear envelope. TorsinA is responsible for early onset torsion dystonia (DYT1 dystonia), a dominantly inherited movement disorder and disease of basal ganglia function. DYT1 dystonia is commonly caused by the deletion of a glutamic acid (DeltaE) in the carboxyl terminal region of TorsinA, where the protein then aggregates in perinuclear inclusions instead of the ER (1-3). TorsinA is degraded primarily through the macroautophagy

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SPECIFICATIONS

Catalog Number

T8067-38

Size

100ul

Applications

FC, WB

Hosts

Rabbit

Reactivities

Hum

Form

Supplied as a liquid in 50 mM Tris-Glycine, pH 7.4, 0.15 M sodium chloride, 40% Glycerol, 0.01% sodium azide and 0.05% BSA.

P Type

Mab

Purity

Supernatant

Isotype

IgG

References

1. Hewett JW, et al. Proc Natl Acad Sci U S A. 104(17):7271- 6, 2007 2. Shashidharan P, et al. Brain Res. 853(2):197-206, 2000 3. Torres G E, et al. PNAS 101(44):15650-15655, 2004 4. Giles L M, et al. Human Molecular Genetics 17(17):2712- 2722, 2008

Additional Info

Recognizes human TorsinA.

Alternative Names

Torsin family 1 member A, Dystonia 1 protein