ATXN2 Antibody

ATXN2, trinucleotide repeat containing 13, TNRC13, SCA2, FLJ46772, ATX2, ataxin 2

WB: 1:500 - 1:2000

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.

PBS with 0.02% sodium azide, 50% glycerol, pH7.3.

batch dependent

Unconjugated

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.

A synthetic peptide of human ATXN2

6311

ataxin 2

ATXN2

Homo sapiens

Liquid

Observed: 170kDa

Affinity purification

Cell Cycle, Neuroscience

Q99700

Optimal dilutions for each application to be determined by the researcher.