Synonyms:ATXN2,ATX2,SCA2,TNRC13,Ataxin-2,Spinocerebellar ataxia type 2 protein,Trinucleotide repeat-containing gene 13 protein
|Synonyms||ATXN2,ATX2,SCA2,TNRC13,Ataxin-2,Spinocerebellar ataxia type 2 protein,Trinucleotide repeat-containing gene 13 protein|
|Immunogen||Synthesized peptide derived from the Internal region of human Ataxin-2|
|Recommended dilution||WB 1:500-1:2000, IHC 1:100-1:300, ELISA 1:20000|
|Cellular localization||Golgi apparatus,Golgi apparatus,trans-Golgi network,Other locations:cytoplasm,cytoplasmic stress granule,intracellular ribonucleoprotein complex,membrane,perinuclear region of cytoplasm,polysome|
|Tissue specificity||Expressed in the brain, heart, liver, skeletal muscle, pancreas and placenta. Isoform 1 is predominant in the brain and spinal cord. Isoform 4 is more abundant in the cerebellum. In the brain, broadly expressed in the amygdala, caudate nucleus, corpus callosum, hippocampus, hypothalamus, substantia nigra, subthalamic nucleus and thalamus.|
|Storage instructions||Store at -20℃. Avoid freeze / thaw cycles.|
|Storage buffer||PBS with 0.02% sodium azide,0.5% BSA and 50% glycerol pH 7.4.|
|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.ATXN2 (Ataxin 2) is a Protein Coding gene. Diseases associated with ATXN2 include Spinocerebellar Ataxia 2 and Parkinson Disease, Late-Onset. An important paralog of this gene is ATXN2L.|
Western Blot analysis of Rat brain cells using ATXN2 Polyclonal Antibody at dilution of 1:1000.
Western Blot analysis of HepG2 cells using ATXN2 Polyclonal Antibody at dilution of 1:1000.