Product Datasheet  
AIPL1 antibody  
Catalog Number: 38935  
Technical:tech@swbio.com  
Information:info@swbio.com  
Description  
  • host_species：  
  • Rabbit
  • Amount：  
  • 100μgμg
  • Swiss-Prot No.：  
  • Swiss-Prot#: Q9NZN9
    NCBI Gene ID: 23746
  • Form of Antibody：  
  • Supplied at 1.0mg/mL in phosphate buffered saline (without Mg2+ and Ca2+), pH 7.4, 150mM NaCl, 0.02% sodium azide and 50% glycerol.
  • Storage：  
  • Store at -20˚C
  • Immunogen：  
  • Recombinant protein of human AIPL1.
  • reactivity：  
  • Hu
  • appl_detail：  
  • Western blotting: 1:500 - 1:2000
    Immunofluorescence: 1:50 - 1:100
  • other_names：  
  • LCA4; AIPL2;
  • Purification：  
  • Antibodies were purified by affinity purification using immunogen.
  • Specificity：  
  • The antibody detects endogenous level of total AIPL1 antibody.
  • Applications：  
  • WB IF
  • Background：  
  • Leber congenital amaurosis (LCA) is the most severe inherited retinopathy with the earliest age of onset and accounts for at least 5% of all inherited retinal diseases. Affected individuals are diagnosed at birth or in the first few months of life with nystagmus, severely impaired vision or blindness and an abnormal or flat electroretinogram. The photoreceptor/pineal-expressed gene, AIPL1, encoding aryl-hydrocarbon interacting protein-like 1, is located within the LCA4 candidate region. The encoded protein contains three tetratricopeptide motifs, consistent with chaperone or nuclear transport activity. Mutations in this gene may cause approximately 20% of recessive LCA. Alternative splicing results in multiple transcript variants.



 
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