EXT1 Antibody (monoclonal) (M01)
Mouse monoclonal antibody raised against a partial recombinant EXT1.
|Application ||WB, E|
|Calculated MW||86255 Da|
|Other Names||Exostosin-1, Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase, Multiple exostoses protein 1, Putative tumor suppressor protein EXT1, EXT1|
|Target/Specificity||EXT1 (AAH01174, 246 a.a. ~ 345 a.a) partial recombinant protein with GST tag. MW of the GST tag alone is 26 KDa.|
|Format||Clear, colorless solution in phosphate buffered saline, pH 7.2 .|
|Storage||Store at -20°C or lower. Aliquot to avoid repeated freezing and thawing.|
|Precautions||EXT1 Antibody (monoclonal) (M01) is for research use only and not for use in diagnostic or therapeutic procedures.|
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This gene encodes an endoplasmic reticulum-resident type II transmembrane glycosyltransferase involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses.
Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively--coincidence within one family. Baasanjav S, et al. BMC Med Genet, 2010 Jul 9. PMID 20618940.Genetic models of osteochondroma onset and neoplastic progression: evidence for mechanisms alternative to EXT genes inactivation. Zuntini M, et al. Oncogene, 2010 Jul 1. PMID 20418910.A novel EXT1 gene mutation causing hereditary multiple exostoses in a Chinese pedigree. Li Y, et al. Pathology, 2010 Jan. PMID 20025490.Identification of 15 loci influencing height in a Korean population. Kim JJ, et al. J Hum Genet, 2010 Jan. PMID 19893584.Identification of four novel EXT1 and EXT2 mutations in five Chinese pedigrees with hereditary multiple exostoses. Li Y, et al. Genet Test Mol Biomarkers, 2009 Dec. PMID 19839753.
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