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Ataxin-2 Polyclonal Antibody, 100μg, (ATB-T0374)
Background: The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. Defects in this gene are the cause of spinocerebellar ataxia type 2 (SCA2). SCA2 belongs to the autosomal dominant cerebellar ataxias type I (ADCA I) which are characterized by cerebellar ataxia in combination with additional clinical features like optic atrophy, ophthalmoplegia, bulbar and extrapyramidal signs, peripheral neuropathy and dementia. SCA2 is caused by expansion of a CAG repeat in the coding region of this gene. This locus has been mapped to chromosome 12, and it has been determined that the diseased allele contains 37-50 CAG repeats, compared to 17-29 in the normal allele. Longer expansions result in earlier onset of the disease. Alternatively spliced transcript variants encoding different isoforms have been identified but their full length sequence has not been determined. [provided by RefSeq, Jan 2010]Product datasheet: Overview Product Description Ataxin-2 Polyclonal Antibody, 100μg, (ATB-T0374) Image Species Reactivities Human Immunogen Synthesized peptide derived from the Internal region of human Ataxin-2. Properties Form Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. Storage Instructions-20°C/1 year References: Direct binding of Ataxin-2 to distinct elements in 3' UTRs promotes mRNA stability and protein expression. Yokoshi M, et al. Mol Cell, 2014 Jul 17. PMID 24954906 Progression of early features of spinocerebellar ataxia type 2 in individuals at risk: a longitudinal study. Velázquez-Pérez L, et al. Lancet Neurol, 2014 May. PMID 24657153 Association analysis of a functional variant in ATXN2 with schizophrenia. Zhang F, et al. Neurosci Lett, 2014 Mar 6. PMID 24333172 De novo mutations in ataxin-2 gene and ALS risk. Laffita-Mesa JM, et al. PLoS One, 2013. PMID 23936447 Free PMC Article Large normal alleles and SCA2 prevalence: lessons from a nationwide study and analysis of the literature. Laffita-Mesa JM, et al. Clin Genet, 2014 Jul. PMID 23865735
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