Huntingtin Polyclonal Antibody, 100μg, (ATB-T2263)

Background: Huntingtin is a disease gene linked to Huntington's disease, a neurodegenerative disorder characterized by loss of striatal neurons. This is thought to be caused by an expanded, unstable trinucleotide repeat in the huntingtin gene, which translates as a polyglutamine repeat in the protein product. A fairly broad range in the number of trinucleotide repeats has been identified in normal controls, and repeat numbers in excess of 40 have been described as pathological. The huntingtin locus is large, spanning 180 kb and consisting of 67 exons. The huntingtin gene is widely expressed and is required for normal development. It is expressed as 2 alternatively polyadenylated forms displaying different relative abundance in various fetal and adult tissues. The larger transcript is approximately 13.7 kb and is expressed predominantly in adult and fetal brain whereas the smaller transcript of approximately 10.3 kb is more widely expressed. The genetic defect leading to Huntington's disease may not necessarily eliminate transcription, but may confer a new property on the mRNA or alter the function of the protein. One candidate is the huntingtin-associated protein-1, highly expressed in brain, which has increased affinity for huntingtin protein with expanded polyglutamine repeats. This gene contains an upstream open reading frame in the 5' UTR that inhibits expression of the huntingtin gene product through translational repression. [provided by RefSeq, Jul 2008]Product datasheet: Overview Product Description Huntingtin Polyclonal Antibody, 100μg, (ATB-T2263) Species Reactivities Human,Mouse,Rat Immunogen Synthesized peptide derived from human Huntingtin around the non-phosphorylation site of S421. Properties Form Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. Storage Instructions-20°C/1 year References: Prion-like proteins sequester and suppress the toxicity of huntingtin exon 1. Kayatekin C, et al. Proc Natl Acad Sci U S A, 2014 Aug 19. PMID 25092318 Free PMC Article Increased Steady-State Mutant Huntingtin mRNA in Huntington's Disease Brain. Liu W, et al. J Huntingtons Dis, 2013. PMID 25062733 Transneuronal propagation of mutant huntingtin contributes to non-cell autonomous pathology in neurons. Pecho-Vrieseling E, et al. Nat Neurosci, 2014 Aug. PMID 25017010 TR-FRET assays of Huntingtin protein fragments reveal temperature and polyQ length-dependent conformational changes. Cui X, et al. Sci Rep, 2014 Jul 7. PMID 24998512 Free PMC Article Inhibition of mitochondrial protein import by mutant huntingtin. Yano H, et al. Nat Neurosci, 2014 Jun. PMID 24836077 Free PMC Article