Product Datasheet  
AHI1 Antibody  
Catalog Number: 40189  
Technical:tech@swbio.com  
Information:info@swbio.com  
Description  
  • host_species:  
  • Rabbit
  • Amount:  
  • 100μgμg
  • Swiss-Prot No.:  
  • Swiss-Prot:Q8N157
    Gene Accssion:NP_001128302
  • Form of Antibody:  
  • Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.
  • Storage:  
  • Store at -20˚C
  • Immunogen:  
  • Synthetic peptide of human Abelson helper integration site 1
  • reactivity:  
  • Hu
  • appl_detail:  
  • Immunohistochemistry:1:25-1:100
  • other_names:  
  • ORF1; AHI-1; JBTS3; dJ71N10.1
  • Purification:  
  • Antigen affinity purification.
  • Specificity:  
  • The antibody detects endogenous levels of total AHI1 protein.
  • Applications:  
  • IHC
  • Background:  
  • This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified.



 
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