ATXN2 Rabbit pAb
Sizes: 20μL, 100μL
Catalogue Numbers: A16666-20, A16666-100
Citations, Manuals and MSDS Available upon request.
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.
Category: Polyclonal Antibodies
Applications: WB, IHC-P, IF/ICC, ELISA
Cross-reactivity: Human, Mouse, Rat
Protein Weight: 140kDa
Observed Molecular Weight: 150kDa
Immunogen: Synthetic peptide
Species: Human
GeneID: 6311
SWISS: Q99700
Alternate Names: ATX2; SCA2; TNRC13; ATXN2
Source: Rabbit
Isotype: IgG
Purity: Affinity purification
Storage: Store at -20℃. Avoid freeze / thaw cycles. Buffer: PBS containing 50% glycerol, preserved with proclin300 or sodium azide (as specified on the Certificate of Analysis), pH 7.3.
Recommended Dilutions: WB, 1:500 - 1:2000 IHC-P, 1:50 - 1:200 IF/ICC, 1:50 - 1:200 ELISA, Recommended starting concentration is 1 μg/mL. Please optimize the concentration based on your specific assay requirements.
Research Areas: Epigenetics Nuclear Signaling, RNA Binding, Cell Biology Developmental Biology, Neuroscience, Neurodegenerative Diseases.
NCBI Alias: ATXN2
Research Use Only