ATX2 (ATXN2) Rabbit Polyclonal Antibody

Specifications

Product Data
Applications	ICC/IF, IHC, WB
Recommend Dilution	WB,1:500 - 1:2000 IHC,1:50 - 1:200 IF,1:50 - 1:200
Reactivity	Human, Mouse, Rat
Modifications	Unmodified
Host	Rabbit
Clonality	Polyclonal
Immunogen	A synthetic peptide of human ATXN2
Formulation	PBS with 0.05% proclin300,50% glycerol,pH7.3.
Concentration	lot specific
Purification	Affinity purification
Conjugation	Unconjugated
Storage Condition	Store at -20℃. Avoid freeze / thaw cycles.
Predicted Protein Size	27kDa/106kDa/109kDa/132kDa/140kDa
Gene Name	ataxin 2
Database Link	Entrez Gene 6311 Human UniProt ID Q99700
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.
Synonyms	ATX2; FLJ46772; SCA2; TNRC13
Reference Data

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