Product Datasheet  
C9orf72 Polyclonal Antibody  
Catalog Number: 29519  
Technical:tech@swbio.com  
Information:info@swbio.com  
Description  
  • host_species：  
  • Rabbit
  • Amount：  
  • 100μgμg
  • Swiss-Prot No.：  
  • Swiss-Prot#:Q96LT7
    NCBI Gene ID:203228
  • Form of Antibody：  
  • Avoid freeze / thaw cycles.|Buffer: PBS with 50% glycerol, pH7.4.
  • Storage：  
  • Store at -20˚C
  • Immunogen：  
  • Recombinant fusion protein of human C9orf72 (NP_060795.1).
  • reactivity：  
  • Human,Mouse
  • appl_detail：  
  • WB 1:500 - 1:2000
    IHC 1:50 - 1:100
  • other_names：  
  • C9orf72; ALSFTD; DENNL72; FTDALS; FTDALS1; protein C9orf72
  • Purification：  
  • Affinity purification
  • Specificity：  
  • Applications：  
  • WB,IHC
  • Background：  
  • 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.



 
© Signalway Biotechnology All Rights Reserved.