EXT2 (gene)

Exostoses (multiple) 2, also known as EXT2, is a human gene.cite web | title = Entrez Gene: EXT2 exostoses (multiple) 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2132| accessdate = ]

PBB_Summary
section_title =
summary_text = This gene encodes 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.cite web | title = Entrez Gene: EXT2 exostoses (multiple) 2| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=2132| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Wuyts W, Van Hul W |title=Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. |journal=Hum. Mutat. |volume=15 |issue= 3 |pages= 220–7 |year= 2000 |pmid= 10679937 |doi= 10.1002/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K |doilabel=10.1002/(SICI)1098-1004(200003)15:3220::AID-HUMU23.0.CO;2-K
*cite journal | author=Wuyts W, Ramlakhan S, Van Hul W, "et al." |title=Refinement of the multiple exostoses locus (EXT2) to a 3-cM interval on chromosome 11. |journal=Am. J. Hum. Genet. |volume=57 |issue= 2 |pages= 382–7 |year= 1995 |pmid= 7668264 |doi=
*cite journal | author=Wu YQ, Heutink P, de Vries BB, "et al." |title=Assignment of a second locus for multiple exostoses to the pericentromeric region of chromosome 11. |journal=Hum. Mol. Genet. |volume=3 |issue= 1 |pages= 167–71 |year= 1994 |pmid= 8162019 |doi=
*cite journal | author=Stickens D, Clines G, Burbee D, "et al." |title=The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes. |journal=Nat. Genet. |volume=14 |issue= 1 |pages= 25–32 |year= 1996 |pmid= 8782816 |doi= 10.1038/ng0996-25
*cite journal | author=Wuyts W, Van Hul W, Wauters J, "et al." |title=Positional cloning of a gene involved in hereditary multiple exostoses. |journal=Hum. Mol. Genet. |volume=5 |issue= 10 |pages= 1547–57 |year= 1997 |pmid= 8894688 |doi=
*cite journal | author=Clines GA, Ashley JA, Shah S, Lovett M |title=The structure of the human multiple exostoses 2 gene and characterization of homologs in mouse and Caenorhabditis elegans. |journal=Genome Res. |volume=7 |issue= 4 |pages= 359–67 |year= 1997 |pmid= 9110175 |doi=
*cite journal | author=Philippe C, Porter DE, Emerton ME, "et al." |title=Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. |journal=Am. J. Hum. Genet. |volume=61 |issue= 3 |pages= 520–8 |year= 1997 |pmid= 9326317 |doi=
*cite journal | author=Wuyts W, Van Hul W, De Boulle K, "et al." |title=Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. |journal=Am. J. Hum. Genet. |volume=62 |issue= 2 |pages= 346–54 |year= 1998 |pmid= 9463333 |doi=
*cite journal | author=Bridge JA, Nelson M, Orndal C, "et al." |title=Clonal karyotypic abnormalities of the hereditary multiple exostoses chromosomal loci 8q24.1 (EXT1) and 11p11-12 (EXT2) in patients with sporadic and hereditary osteochondromas. |journal=Cancer |volume=82 |issue= 9 |pages= 1657–63 |year= 1998 |pmid= 9576285 |doi=
*cite journal | author=McCormick C, Leduc Y, Martindale D, "et al." |title=The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. |journal=Nat. Genet. |volume=19 |issue= 2 |pages= 158–61 |year= 1998 |pmid= 9620772 |doi= 10.1038/514
*cite journal | author=Lind T, Tufaro F, McCormick C, "et al." |title=The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate. |journal=J. Biol. Chem. |volume=273 |issue= 41 |pages= 26265–8 |year= 1998 |pmid= 9756849 |doi=
*cite journal | author=Park KJ, Shin KH, Ku JL, "et al." |title=Germline mutations in the EXT1 and EXT2 genes in Korean patients with hereditary multiple exostoses. |journal=J. Hum. Genet. |volume=44 |issue= 4 |pages= 230–4 |year= 1999 |pmid= 10429361 |doi=
*cite journal | author=Xu L, Xia J, Jiang H, "et al." |title=Mutation analysis of hereditary multiple exostoses in the Chinese. |journal=Hum. Genet. |volume=105 |issue= 1-2 |pages= 45–50 |year= 1999 |pmid= 10480354 |doi=
*cite journal | author=Simmons AD, Musy MM, Lopes CS, "et al." |title=A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses. |journal=Hum. Mol. Genet. |volume=8 |issue= 12 |pages= 2155–64 |year= 1999 |pmid= 10545594 |doi=
*cite journal | author=McCormick C, Duncan G, Goutsos KT, Tufaro F |title=The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 2 |pages= 668–73 |year= 2000 |pmid= 10639137 |doi=
*cite journal | author=Kobayashi S, Morimoto K, Shimizu T, "et al." |title=Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus. |journal=Biochem. Biophys. Res. Commun. |volume=268 |issue= 3 |pages= 860–7 |year= 2000 |pmid= 10679296 |doi= 10.1006/bbrc.2000.2219
*cite journal | author=Shi YR, Wu JY, Tsai FJ, "et al." |title=An R223P mutation in EXT2 gene causes hereditary multiple exostoses. |journal=Hum. Mutat. |volume=15 |issue= 4 |pages= 390–1 |year= 2000 |pmid= 10738008 |doi= 10.1002/(SICI)1098-1004(200004)15:4<390::AID-HUMU35>3.0.CO;2-E |doilabel=10.1002/(SICI)1098-1004(200004)15:4390::AID-HUMU353.0.CO;2-E
*cite journal | author=Stickens D, Brown D, Evans GA |title=EXT genes are differentially expressed in bone and cartilage during mouse embryogenesis. |journal=Dev. Dyn. |volume=218 |issue= 3 |pages= 452–64 |year= 2000 |pmid= 10878610 |doi= 10.1002/1097-0177(200007)218:3<452::AID-DVDY1000>3.0.CO;2-P |doilabel=10.1002/1097-0177(200007)218:3452::AID-DVDY10003.0.CO;2-P
*cite journal | author=Bernard MA, Hall CE, Hogue DA, "et al." |title=Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes. |journal=Cell Motil. Cytoskeleton |volume=48 |issue= 2 |pages= 149–62 |year= 2001 |pmid= 11169766 |doi= 10.1002/1097-0169(200102)48:2<149::AID-CM1005>3.0.CO;2-3 |doilabel=10.1002/1097-0169(200102)48:2149::AID-CM10053.0.CO;2-3

External links

* [http://MHEResearchFoundation.org Multiple Hereditary Exostoses Research Foundation]

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