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Exostoses 1 (EXT1)

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EXT; Ttv; LGCR, LGS; Langer-Giedion Syndrome Chromosome Region; Glucuronosyl-N-acetylglucosaminyl-Proteoglycan 4-Alpha-N-Acetylglucosaminyltransferase

Exostoses 1 (EXT1)
CCC G239
HGNC 3512
MGI 894663
PubMed 18216313
RGD 1587375
UniProt Q16394
Wiki EXT1
Exostosin-1 is 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.By screening a human chondrocyte cDNA library with cosmids that spanned breakpoints on chromosome 8q identified in patients with multiple exostoses type I, Ahn et al. (1995) identified a cDNA encoding a putative 746-amino acid protein with a molecular mass of 86.3 kD. Northern blot analysis detected expression of a 3.4-kb transcript in all tissues tested, with highest levels in liver. The authors noted that the breakpoint region in the EXT1 gene contains 2 identical polypyrimidine tracts (CCCCCCT) that are known to be deletion hotspots, similar to the retinoblastoma gene.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPG239Hu01 Recombinant Exostoses 1 (EXT1) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAG239Hu01 Polyclonal Antibody to Exostoses 1 (EXT1) WB; IHC; ICC; IP.
LAG239Hu71 Biotin-Linked Polyclonal Antibody to Exostoses 1 (EXT1) WB; IHC; ICC.
MAG239Hu21 Monoclonal Antibody to Exostoses 1 (EXT1) WB; IHC; ICC; IP.
Assay Kits SEG239Hu ELISA Kit for Exostoses 1 (EXT1) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Exostoses 1 (EXT1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Exostoses 1 (EXT1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Exostoses 1 (EXT1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Exostoses 1 (EXT1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Exostoses 1 (EXT1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Exostoses 1 (EXT1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Exostoses 1 (EXT1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Exostoses 1 (EXT1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Exostoses 1 (EXT1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Exostoses 1 (EXT1) ELISA Kit Customized Service Offer
  1. "Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)."Nat. Genet. 11:137-143(1995) [PubMed] [Europe PMC] [Abstract]
  2. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  3. "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]
  4. "Genomic organization and promoter structure of the human EXT1 gene."Genomics 40:351-354(1997) [PubMed] [Europe PMC] [Abstract]
  5. "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]
  6. "The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins."J. Clin. Invest. 108:511-516(2001) [PubMed] [Europe PMC] [Abstract]
  7. "Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes."Hum. Mutat. 15:220-227(2000) [PubMed] [Europe PMC] [Abstract]
  8. "Spectrum of EXT1 mutations in hereditary multiple exostoses."Am. J. Hum. Genet. 59:A280-A280(1996)
  9. "Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies."Am. J. Hum. Genet. 60:80-86(1997) [PubMed] [Europe PMC] [Abstract]
  10. "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]
  11. "Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses."Am. J. Hum. Genet. 62:346-354(1998) [PubMed] [Europe PMC] [Abstract]
  12. "Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses."Hum. Mutat. 11:231-239(1998) [PubMed] [Europe PMC] [Abstract]
  13. "EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas."Am. J. Hum. Genet. 65:689-698(1999) [PubMed] [Europe PMC] [Abstract]
  14. "Mutation analysis of hereditary multiple exostoses in the Chinese."Hum. Genet. 105:45-50(1999) [PubMed] [Europe PMC] [Abstract]
  15. "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]
  16. "Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity."Am. J. Hum. Genet. 69:55-66(2001) [PubMed] [Europe PMC] [Abstract]