- HOST SPECIES: Rabbit
- SPECIES REACTIVITY: Human, Mouse
- IMMUNOGEN: A synthetic peptide of human ATXN2
- CONJUGATE: Unconjugated
- TESTED APPLICATIONS: WB
- APPLICATION NOTE: WB: 1:500 - 1:2000
- POSITIVE CONTROL 1: HeLa
- POSITIVE CONTROL 2: Cat. No. 1210 – 293 Cell Lysate
- PREDICTED MOLECULAR WEIGHT: Observed: 140kDa
- PURIFICATION: Affinity purification
- CLONALITY: Polyclonal
- ISOTYPE: IgG
- PHYSICAL STATE: Liquid
- BUFFER: PBS with 0.02% sodium azide, pH7.3.
- CONCENTRATION: batch dependent
- STORAGE CONDITIONS: Store at 4°C. Avoid freeze / thaw cycles.
- NCBI OFFICIAL SYMBOL: ATXN2
- ADDITIONAL NAMES: ATXN2, trinucleotide repeat containing 13, TNRC13, SCA2, FLJ46772, ATX2, ataxin 2
- NCBI GENE ID NUMBER: 6311
- USER NOTE: Optimal dilutions for each application to be determined by the researcher.
- This gene 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 encoded by this gene has two globular domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic reticulum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic reticulum and plasma membrane, is involved in endocytosis, and modulates mTOR signals, modifying ribosomal translation and mitochondrial function. The N-terminal region of the protein contains a polyglutamine tract of 14-31 residues that can be expanded in the pathogenic state to 32-200 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. Genome-wide association studies indicate that loss-of-function mutations in this gene may be associated with susceptibility to type I diabetes, obesity and hypertension. Alternative splicing results in multiple transcript variants.
- FOR RESEARCH USE ONLY
For additional information, visit ProSci's Terms & Conditions Page.
- Disclaimer: Optimal dilutions/concentrations should be determined by the end user. The information provided is a guideline for product use. This product is for research use only.
CATALOG NUMBER: 19-934
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