Product Datasheet  
oral-facial-digital syndrome 1 antibody  
Catalog Number: 23085  
Technical:tech@swbio.com  
Information:info@swbio.com  
Description  
  • host_species:  
  • Rabbit
  • Amount:  
  • 100μgμg
  • Swiss-Prot No.:  
  • Swiss-Prot:O75665
    Gene ID:8481
  • Form of Antibody:  
  • Supplied in 0.1M Tris-buffered saline with 10% Glycerol (pH7.0). 0.01% Thimerosal was added as a preservative.
  • Storage:  
  • Store at -20˚C for long term preservation (recommended). Store at 4˚C for short term use.
  • Immunogen:  
  • Recombinant protein fragment contain a sequence corresponding to a region within amino acids 136 and 387 of Human OFD1
  • reactivity:  
  • Hu
  • appl_detail:  
  • Predicted MW: 117kd
    Western blotting: 1:500-1:3000
  • other_names:  
  • Purification:  
  • Purified by antigen-affinity chromatography.
  • Specificity:  
  • Applications:  
  • WB
  • Background:  
  • This gene is located on the X chromosome and encodes a centrosomal protein. A knockout mouse model has been used to study the effect of mutations in this gene. The mouse gene is also located on the X chromosome, however, unlike the human gene it is not subject to X inactivation. Mutations in this gene are associated with oral-facial-digital syndrome type I and Simpson-Golabi-Behmel syndrome type 2. Many pseudogenes have been identified; a single pseudogene is found on chromosome 5 while as many as fifteen have been found on the Y chromosome. Alternatively spliced transcripts have been described for this gene but the biological validity of these transcripts has not been determined. [provided by RefSeq]



 
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