Product Datasheet  
EVC2 Antibody  
Catalog Number: 37560  
Technical:tech@swbio.com  
Information:info@swbio.com  
Description  
  • host_species:  
  • Rabbit
  • Amount:  
  • 100μgμg
  • Swiss-Prot No.:  
  • Swiss-Prot#: Q86UK5
    NCBI Gene ID: 132884
    Gene Accssion: NP_667338
  • Form of Antibody:  
  • Rabbit IgG in pH7.4 PBS, 0.05% NaN3, 40% Glycerol.
  • Storage:  
  • Store at -20˚C
  • Immunogen:  
  • Synthetic peptide corresponding to a region derived from internal residues of human Ellis van Creveld syndrome 2
  • reactivity:  
  • Hu
  • appl_detail:  
  • Western blotting: 1:200-1:1000

  • other_names:  
  • LBN
  • Purification:  
  • Antigen affinity purification.
  • Specificity:  
  • The antibody detects endogenous levels of total EVC2 protein.
  • Applications:  
  • WB
  • Background:  
  • This gene encodes a protein that functions in bone formation and skeletal development. Mutations in this gene, as well as in a neighboring gene that lies in a head-to-head configuration, cause Ellis-van Creveld syndrome, an autosomal recessive skeletal dysplasia that is also known as chondroectodermal dysplasia. Mutations in this gene also cause acrofacial dysostosis Weyers type, also referred to as Curry-Hall syndrome, a disease that combines limb and facial abnormalities. Alternative splicing results in multiple transcript variants.




 
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