ATXN2 Polyclonal Antibody

Catalog Number:

29930

Amount:

100μg

Price:

$319

Swiss-Prot No:

Swiss-Prot#:Q99700
NCBI Gene ID:6311

Form of Antibody:

Avoid freeze / thaw cycles.|Buffer: PBS with 50% glycerol, pH7.4.

Storage/Stability:

Immunogen:

A synthetic peptide of human ATXN2

Purification:

Affinity purification

Specificity/Sensitivity:

Applications:

WB,IHC,IF

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.

References:

appl_detail:

WB 1:500 - 1:2000
IHC 1:50 - 1:200
IF 1:50 - 1:200

Datasheet PDF