ATXN2 Polyclonal Antibody

ATXN2 Polyclonal Antibody

Catalog Number:
A001509616RED
Mfr. No.:
RD266891A
Price:
$347
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      • Overview
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          Background

          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.

      • Properties
        • Host
          rabbit
          Isotype
          IgG
          Reactivity
          human; mouse; rat
          Immunogen
          A synthetic peptide of human ATXN2
          Purification
          Affinity purification
          Conjugate
          Unconjugated
          Formulation
          PBS with 0.02% sodium azide, 50% glycerol, pH7.3
          Storage
          Store at -20°C. Avoid freeze-thaw cycles.
          Concentration
          1 mg/mL
          Antigen
          ATXN2, ATX2, SCA2, TNRC13, ataxin-2 (Gene ID:6311; UniProt:Q99700)

          * For reference only.

      • Applications
        • Application
          IHC; IF
        • Application Dilutions
          IHC 1:50-1:200
          IF 1:50-1:200

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