Product Datasheet  
EXT1 Antibody  
Catalog Number: 32560  
Technical:tech@swbio.com  
Information:info@swbio.com  
Description  
  • host_species：  
  • Rabbit
  • Amount：  
  • 100μgμg
  • Swiss-Prot No.：  
  • Swiss-Prot:Q16394
    NCBI Gene ID:2131
  • 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 EXT1.
  • reactivity：  
  • Human,Mouse
  • appl_detail：  
  • WB 1:500 - 1:2000
    IF 1:10 - 1:100
  • other_names：  
  • EXT; LGS; TTV; LGCR; TRPS2
  • Purification：  
  • Antibodies were purified by affinity purification using immunogen.
  • Specificity：  
  • The antibody detects endogenous level of total EXT1 protein.
  • Applications：  
  • WB,IF
  • Background：  
  • Hereditary multiple exostoses (EXT) is an autosomal dominant disorder characterized by the formation of cartilage-capped tumors (exostoses) that develop from the growth plate of endochondral bone. This condition can lead to skeletal abnormalities, short stature and malignant transformation of exostoses to chondrosarcomas or osteosarcomas. Linkage analyses have identified three different genes for EXT, EXT1 on 8q24.1, EXT2 on 11p11-13 and EXT3 on 19p, a family of tumor suppressor genes. Most EXT cases have been attributed to missense or frameshift mutations, which lead to loss of function of the EXT genes. EXT1 is an ER-resident type II transmembrane glycoprotein and a heparan sulphate polymerase with both D-glucuronyl and N-acetyl-D-glucosaminoglycan transferase activities. Expression of EXT1 in cells results in the alteration of the synthesis and display of cell surface heparan sulfate glycosaminoglycans. EXT1 mutations have been identified in multiple types of human tumors.



 
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