Ataxin 2 antibody

Volume : 100 µg
Purification : Immunogen affinity purified
Form : liquid
Purity : 95% as determined by SDS-PAGE
Host : Rabbit
Clonality : polyclonal Ab
Clone ID :
Isotype : IgG
Storage : PBS with 0.02% sodium azide and 50% glycerol pH 7.3,-20? for 12 months(Avoid repeated freeze / thaw cycles.)
Background : This gene belongs to a group of genes that is associated with microsatellite-expansion diseases, a class of neurological and neuromusc µLar disorders caused by expansion of short stretches of repetitive DNA. The protein encoded by this gene has two glob µLar domains near the N-terminus, one of which contains a clathrin-mediated trans-Golgi signal and an endoplasmic retic µLum exit signal. The encoded cytoplasmic protein localizes to the endoplasmic retic µLum and plasma membrane, is involved in endocytosis, and mod µLates 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 res µLt 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 res µLts in m µLtiple transcript variants.
Immunogen : ataxin 2
Aliases : ataxin 2, ATX2, ATXN2, SCA2, TNRC13
Observed MW : 140-150 kDa
Uniprot ID : Q99700
Reactivity : Human, Mouse, Rat
Application : ELISA, IHC, IF, WB, IP
Recommended dilution : WB : 1 : 1000-1 : 4000; IP : 1 : 500-1 : 2000; IHC : 1 : 20-1 : 200; IF : 1 : 10-1 : 100
Gene ID : 6311
Research Area : Neuroscience, Metabolism