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ProductsBack/C9orf72 antibody [GT1553]

C9orf72 antibody [GT1553]

GTX634482
GeneTex
ApplicationsImmunoFluorescence, Western Blot, ImmunoCytoChemistry, ImmunoHistoChemistry, ImmunoHistoChemistry Paraffin
Product group Antibodies
TargetC9orf72
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Overview

  • Supplier
    GeneTex
  • Product Name
    C9orf72 antibody [GT1553]
  • Delivery Days Customer
    9
  • Application Supplier Note
    WB: 1:100-1:1000. IHC-P: 1:100-1:1000. *Optimal dilutions/concentrations should be determined by the researcher.Not tested in other applications.
  • Applications
    ImmunoFluorescence, Western Blot, ImmunoCytoChemistry, ImmunoHistoChemistry, ImmunoHistoChemistry Paraffin
  • Certification
    Research Use Only
  • Clonality
    Monoclonal
  • Clone ID
    GT1553
  • Concentration
    1 mg/ml
  • Conjugate
    Unconjugated
  • Gene ID203228
  • Target name
    C9orf72
  • Target description
    C9orf72-SMCR8 complex subunit
  • Target synonyms
    ALSFTD, DENND9, DENNL72, FTDALS, FTDALS1, guanine nucleotide exchange factor C9orf72, guanine nucleotide exchange C9orf72, protein C9orf72
  • Host
    Mouse
  • Isotype
    IgG2a
  • Protein IDQ96LT7
  • Protein Name
    Guanine nucleotide exchange factor C9orf72
  • Scientific Description
    The protein encoded by this gene plays an important role in the regulation of endosomal trafficking, and has been shown to interact with Rab proteins that are involved in autophagy and endocytic transport. Expansion of a GGGGCC repeat from 2-22 copies to 700-1600 copies in the intronic sequence between alternate 5 exons in transcripts from this gene is associated with 9p-linked ALS (amyotrophic lateral sclerosis) and FTD (frontotemporal dementia) (PMID: 21944778, 21944779). Studies suggest that hexanucleotide expansions could result in the selective stabilization of repeat-containing pre-mRNA, and the accumulation of insoluble dipeptide repeat protein aggregates that could be pathogenic in FTD-ALS patients (PMID: 23393093). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2016]
  • Storage Instruction
    -20°C or -80°C,2°C to 8°C
  • UNSPSC
    12352203

References

  • Lorenzini I, Alsop E, Levy J, et al. Moderate intrinsic phenotypic alterations in C9orf72 ALS/FTD iPSC-microglia despite the presence of C9orf72 pathological features. Front Cell Neurosci. 2023,17:1179796. doi: 10.3389/fncel.2023.1179796
    Read this paper
  • Ghaffari LT, Trotti D, Haeusler AR. Differential response of C9orf72 transcripts following neuronal depolarization. iScience. 2023,26(6):106959. doi: 10.1016/j.isci.2023.106959
    Read this paper
  • Falzarano MS, Rossi R, Grilli A, et al. Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases. Front Physiol. 2021,12:716471. doi: 10.3389/fphys.2021.716471
    Read this paper
  • Lall D, Lorenzini I, Mota TA, et al. C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation. Neuron. 2021,109(14):2275-2291.e8. doi: 10.1016/j.neuron.2021.05.020
    Read this paper
  • Xiao S, McKeever PM, Lau A, et al. Synaptic localization of C9orf72 regulates post-synaptic glutamate receptor 1 levels. Acta Neuropathol Commun. 2019,7(1):161. doi: 10.1186/s40478-019-0812-5
    Read this paper
  • Laflamme C, McKeever PM, Kumar R, et al. Implementation of an antibody characterization procedure and application to the major ALS/FTD disease gene C9ORF72. Elife. 2019,8. doi: 10.7554/eLife.48363
    Read this paper

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Figure 1. Western blot analysis of C9ORF72 using anti-C9ORF72 antibody (A00419-1). Electrophoresis was performed on a 5-20% SDS-PAGE gel at 70V (Stacking gel) / 90V (Resolving gel) for 2-3 hours. The sample well of each lane was loaded with 50ug of sample under reducing conditions. Lane 1: human placenta tissue lysates, Lane 2: human U2OS whole cell lysates, Lane 3: human PC-3 whole cell lysates, Lane 4: human K562 whole cell lysates, Lane 5: human Hela whole cell lysates, Lane 6: human A431 whole cell lysates, Lane 7: human A549 whole cell lysates. After Electrophoresis, proteins were transferred to a Nitrocellulose membrane at 150mA for 50-90 minutes. Blocked the membrane with 5% Non-fat Milk/ TBS for 1.5 hour at RT. The membrane was incubated with rabbit anti-C9ORF72 antigen affinity purified polyclonal antibody (Catalog # A00419-1) at 0.5 microg/mL overnight at 4°C, then washed with TBS-0.1%Tween 3 times with 5 minutes each and probed with a goat anti-rabbit IgG-HRP secondary antibody at a dilution of 1:10000 for 1.5 hour at RT. The signal is developed using an Enhanced Chemiluminescent detection (ECL) kit (Catalog # EK1002) with Tanon 5200 system. A specific band was detected for C9ORF72 at approximately 65KD. The expected band size for C9ORF72 is at 65KD.
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