EXT1

Exostoses (multiple) 1
Identifiers
Symbols	EXT1 ; EXT; ttv
External IDs	Template:OMIM5 Template:MGI HomoloGene: 30957
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Exostoses (multiple) 1, also known as EXT1, is a human gene.

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.

Further reading

• Wuyts W, Van Hul W (2000). "Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes". Hum. Mutat. 15 (3): 220–7. doi:10.1002/(SICI)1098-1004(200003)15:3<220::AID-HUMU2>3.0.CO;2-K. PMID 10679937.
• Duncan G, McCormick C, Tufaro F (2001). "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. PMID 11518722.CS1 maint: Multiple names: authors list (link)
• Ogle RF, Dalzell P, Turner G; et al. (1992). "Multiple exostoses in a patient with t(8;11)(q24.11;p15.5)". J. Med. Genet. 28 (12): 881–3. PMID 1757967.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ahn J, Lüdecke HJ, Lindow S; et al. (1995). "Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)". Nat. Genet. 11 (2): 137–43. doi:10.1038/ng1095-137. PMID 7550340.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Cook A, Raskind W, Blanton SH; et al. (1993). "Genetic heterogeneity in families with hereditary multiple exostoses". Am. J. Hum. Genet. 53 (1): 71–9. PMID 8317501.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hou J, Parrish J, Lüdecke HJ; et al. (1996). "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. PMID 8530105.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Hecht JT, Hogue D, Wang Y; et al. (1997). "Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies". Am. J. Hum. Genet. 60 (1): 80–6. PMID 8981950.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lüdecke HJ, Ahn J, Lin X; et al. (1997). "Genomic organization and promoter structure of the human EXT1 gene". Genomics. 40 (2): 351–4. doi:10.1006/geno.1996.4577. PMID 9119404.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Philippe C, Porter DE, Emerton ME; et al. (1997). "Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses". Am. J. Hum. Genet. 61 (3): 520–8. PMID 9326317.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wuyts W, Van Hul W, De Boulle K; et al. (1998). "Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses". Am. J. Hum. Genet. 62 (2): 346–54. PMID 9463333.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Raskind WH, Conrad EU, Matsushita M; et al. (1998). "Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses". Hum. Mutat. 11 (3): 231–9. doi:10.1002/(SICI)1098-1004(1998)11:3<231::AID-HUMU8>3.0.CO;2-K. PMID 9521425.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• McCormick C, Leduc Y, Martindale D; et al. (1998). "The putative tumour suppressor EXT1 alters the expression of cell-surface heparan sulfate". Nat. Genet. 19 (2): 158–61. doi:10.1038/514. PMID 9620772.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lin X, Gan L, Klein WH, Wells D (1998). "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. doi:10.1006/bbrc.1998.9050. PMID 9703997.CS1 maint: Multiple names: authors list (link)
• Lind T, Tufaro F, McCormick C; et al. (1998). "The putative tumor suppressors EXT1 and EXT2 are glycosyltransferases required for the biosynthesis of heparan sulfate". J. Biol. Chem. 273 (41): 26265–8. PMID 9756849.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bovée JV, Cleton-Jansen AM, Wuyts W; et al. (1999). "EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas". Am. J. Hum. Genet. 65 (3): 689–98. PMID 10441575.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Xu L, Xia J, Jiang H; et al. (1999). "Mutation analysis of hereditary multiple exostoses in the Chinese". Hum. Genet. 105 (1–2): 45–50. PMID 10480354.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Simmons AD, Musy MM, Lopes CS; et al. (1999). "A direct interaction between EXT proteins and glycosyltransferases is defective in hereditary multiple exostoses". Hum. Mol. Genet. 8 (12): 2155–64. PMID 10545594.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• McCormick C, Duncan G, Goutsos KT, Tufaro F (2000). "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. PMID 10639137.CS1 maint: Multiple names: authors list (link)
• Kobayashi S, Morimoto K, Shimizu T; et al. (2000). "Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus". Biochem. Biophys. Res. Commun. 268 (3): 860–7. doi:10.1006/bbrc.2000.2219. PMID 10679296.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)

External links

• Multiple Hereditary Exostoses Research Foundation