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Exostoses 2 (EXT2)

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SOTV; Multiple exostoses protein 2; Glucuronosyl-N-acetylglucosaminyl-proteoglycan/N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase

Exostoses 2 (EXT2)
CCC G240
HGNC 3513
MGI 108050
PubMed 17610078
UniProt Q93063
Exostosin-2 is one of two glycosyltransferases involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type II form of multiple exostoses.By positional cloning and use of a chromosome 11-specific fetal brain cDNA library, Stickens et al. (1996) identified the putative EXT2 gene, which was predicted to encode a 718-amino acid protein with a molecular mass of 82 kD. Both protein and DNA sequence-based algorithms detected significant similarity with the product of the EXT1 gene, suggesting that the 2 genes are evolutionarily and functionally related. Northern blot analysis detected a major 3.5-kb mRNA transcript and a minor band of 3.7 to 4.0 kb in most tissues.EXT2 gene may be expressed as a complex set of alternatively spliced forms.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPG240Hu01 Recombinant Exostoses 2 (EXT2) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies n/a Monoclonal Antibody to Exostoses 2 (EXT2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Exostoses 2 (EXT2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Exostoses 2 (EXT2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Exostoses 2 (EXT2) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Exostoses 2 (EXT2) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Exostoses 2 (EXT2) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Exostoses 2 (EXT2) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Exostoses 2 (EXT2) CLIA Kit Customized Service Offer
n/a ELISA Kit for Exostoses 2 (EXT2) ELISA Kit Customized Service Offer
  1. "The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes."Nat. Genet. 14:25-32(1996) [PubMed] [Europe PMC] [Abstract]
  2. "Positional cloning of a gene involved in hereditary multiple exostoses." Hum. Mol. Genet. 5:1547-1557(1996) [PubMed] [Europe PMC] [Abstract]
  3. "The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans."Genome Res. 7:359-367(1997) [PubMed] [Europe PMC] [Abstract]
  4. "Molecular cloning of a candidate gene for hereditary multiple exostoses type II."Prog. Nat. Sci. 6:692-699(1996)
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  6. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  7. "Human chromosome 11 DNA sequence and analysis including novel gene identification." Nature 440:497-500(2006) [PubMed] [Europe PMC] [Abstract]
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  9. "Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus."Biochem. Biophys. Res. Commun. 268:860-867(2000) [PubMed] [Europe PMC] [Abstract]
  10. "A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses."Hum. Mol. Genet. 8:2155-2164(1999) [PubMed] [Europe PMC] [Abstract]
  11. "Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes."Hum. Mutat. 15:220-227(2000) [PubMed] [Europe PMC] [Abstract]
  12. "Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses."Am. J. Hum. Genet. 61:520-528(1997) [PubMed] [Europe PMC] [Abstract]
  13. "Mutation analysis of hereditary multiple exostoses in the Chinese."Hum. Genet. 105:45-50(1999) [PubMed] [Europe PMC] [Abstract]
  14. "Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses."J. Hum. Genet. 44:230-234(1999) [PubMed] [Europe PMC] [Abstract]
  15. "An R223P mutation in EXT2 gene causes hereditary multiple exostoses."Hum. Mutat. 15:390-391(2000) [PubMed] [Europe PMC] [Abstract]
  16. "Mutation frequencies of EXT1 and EXT2 in 43 Japanese families with hereditary multiple exostoses."Am. J. Med. Genet. 99:59-62(2001) [PubMed] [Europe PMC] [Abstract]
  17. "Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes."Cell Motil. Cytoskeleton 48:149-162(2001) [PubMed] [Europe PMC] [Abstract]
  18. "Ext-mutation analysis in Italian sporadic and hereditary osteochondromas."Int. J. Cancer 95:378-383(2001) [PubMed] [Europe PMC] [Abstract]
  19. "Genotype-phenotype correlation in hereditary multiple exostoses."J. Med. Genet. 38:430-434(2001) [PubMed] [Europe PMC] [Abstract]