ATXN2 belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromuscular disorders caused by expansion of short stretches of repetitive DNA.
The protein (ataxin 2) encoded by ATXN2 has two globular domains near the N-terminal, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal.
The protein is primarily localized to the Golgi apparatus, with deletion of the Golgi and endoplasmic reticulum signals resulting in abnormal subcellular localization.
In addition, the N-terminal region contains a polyglutamine tract of aa14-31 residues that can be expanded in the pathogenic state to aa32-200 residues.
Intermediate length expansions of this tract increase susceptibility to amyotrophic lateral sclerosis, while long expansions of this tract result in spinocerebellar ataxia-2, an autosomal-dominantly inherited, neurodegenerative disorder.
Alternative splicing results in multiple transcript variants.
Applications:Suitable for use in Western Blot, Immunohistochemistry, and ELISA.
Other applications not tested.
Recommended Dilution:Western Blot: 1:500-1:2000Immunohistochemistry (paraffin): 1:100-1:300ELISA: 1:20,000Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：30ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by immunoaffinity chromatography.
Form：Supplied as a liquid in PBS, 0.5% BSA, 0.02% sodium azide, 50% glycerol.
Specificity：Recognizes endogenous levels of human Ataxin-2.
Isotype：IgG
Calc Applications Abbrev：E IHC WB
Calc Crossreactivity：Hu
Immunogen：Synthetic peptide corresponding to aa700-780 of human Ataxin-2.
