EXT1 explained

Exostosin-1 is a protein that in humans is encoded by the EXT1 gene.^[1]

This gene encodes one of the two endoplasmic reticulum-resident type II transmembrane glycosyltransferase – the other being EXT2 – which are involved in the chain elongation step of heparan sulfate biosynthesis. Mutations in this gene cause the type I form of multiple exostoses.^[1]

Interactions

EXT1 has been shown to interact with TRAP1.^[2]

See also

• Langer–Giedion syndrome
• Hereditary multiple exostoses type 1

Further reading

• Wuyts W, Van Hul W . Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes. . Hum. Mutat. . 15 . 3 . 220–7 . 2000 . 10679937 . 10.1002/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K . 45999816 .
• Duncan G, McCormick C, Tufaro F . 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 . 4 . 511–6 . 2001 . 11518722 . 10.1172/JCI13737 . 209410 .
• Ogle RF, Dalzell P, Turner G . Multiple exostoses in a patient with t(8;11)(q24.11;p15.5). . J. Med. Genet. . 28 . 12 . 881–3 . 1992 . 1757967 . 10.1136/jmg.28.12.881 . 1017169 . etal.
• Ahn J, Lüdecke HJ, Lindow S . Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1). . Nat. Genet. . 11 . 2 . 137–43 . 1995 . 7550340 . 10.1038/ng1095-137 . 39272385 . etal.
• Cook A, Raskind W, Blanton SH . Genetic heterogeneity in families with hereditary multiple exostoses. . Am. J. Hum. Genet. . 53 . 1 . 71–9 . 1993 . 8317501 . 1682231 . etal.
• Hou J, Parrish J, Lüdecke HJ . A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1). . Genomics . 29 . 1 . 87–97 . 1996 . 8530105 . 10.1006/geno.1995.1218 . etal.
• Hecht JT, Hogue D, Wang Y . Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies. . Am. J. Hum. Genet. . 60 . 1 . 80–6 . 1997 . 8981950 . 1712567 . etal.
• Lüdecke HJ, Ahn J, Lin X . Genomic organization and promoter structure of the human EXT1 gene. . Genomics . 40 . 2 . 351–4 . 1997 . 9119404 . 10.1006/geno.1996.4577 . etal.
• Philippe C, Porter DE, Emerton ME . Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses. . Am. J. Hum. Genet. . 61 . 3 . 520–8 . 1997 . 9326317 . 10.1086/515505 . 1715939 . etal.
• Wuyts W, Van Hul W, De Boulle K . Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses. . Am. J. Hum. Genet. . 62 . 2 . 346–54 . 1998 . 9463333 . 10.1086/301726 . 1376901 . etal.
• Raskind WH, Conrad EU, Matsushita M . Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses. . Hum. Mutat. . 11 . 3 . 231–9 . 1998 . 9521425 . 10.1002/(SICI)1098-1004(1998)11:3<231::AID-HUMU8>3.0.CO;2-K . 20194422 . etal.
• McCormick C, Leduc Y, Martindale D . The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate. . Nat. Genet. . 19 . 2 . 158–61 . 1998 . 9620772 . 10.1038/514 . 25832441 . etal.
• Lin X, Gan L, Klein WH, Wells D . Expression and functional analysis of mouse EXT1, a homolog of the human multiple exostoses type 1 gene. . Biochem. Biophys. Res. Commun. . 248 . 3 . 738–43 . 1998 . 9703997 . 10.1006/bbrc.1998.9050 .
• Lind T, Tufaro F, McCormick C . The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate. . J. Biol. Chem. . 273 . 41 . 26265–8 . 1998 . 9756849 . 10.1074/jbc.273.41.26265 . etal. free .
• Bovée JV, Cleton-Jansen AM, Wuyts W . EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas. . Am. J. Hum. Genet. . 65 . 3 . 689–98 . 1999 . 10441575 . 10.1086/302532 . 1377975 . etal.
• Xu L, Xia J, Jiang H . Mutation analysis of hereditary multiple exostoses in the Chinese. . Hum. Genet. . 105 . 1–2 . 45–50 . 1999 . 10480354 . 10.1007/s004390051062 . etal.
• Simmons AD, Musy MM, Lopes CS . A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses. . Hum. Mol. Genet. . 8 . 12 . 2155–64 . 1999 . 10545594 . 10.1093/hmg/8.12.2155 . etal. free .
• McCormick C, Duncan G, Goutsos KT, Tufaro F . The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate. . Proc. Natl. Acad. Sci. U.S.A. . 97 . 2 . 668–73 . 2000 . 10639137 . 10.1073/pnas.97.2.668 . 15388 . 2000PNAS...97..668M . free .
• Kobayashi S, Morimoto K, Shimizu T . Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus. . Biochem. Biophys. Res. Commun. . 268 . 3 . 860–7 . 2000 . 10679296 . 10.1006/bbrc.2000.2219 . etal.

External links

• Multiple Hereditary Exostoses Research Foundation

Notes and References

1. Web site: Entrez Gene: EXT1 exostoses (multiple) 1.
2. 10.1093/hmg/8.12.2155 . Simmons . A D . Musy M M. Lopes C S. Hwang L Y. Yang Y P. Lovett M . Nov 1999 . A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses . Hum. Mol. Genet. . 8 . 12 . 2155–64 . ENGLAND. 0964-6906. 10545594 . free .