EXT1
Protein-coding gene in the species Homo sapiens
Exostosin-1 is a protein that in humans is encoded by the EXT1 gene .[ 5]
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 .[ 5]
Interactions
EXT1 has been shown to interact with TRAP1 .[ 6]
See also
References
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 . S2CID 45999816 . 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. doi :10.1172/JCI13737 . PMC 209410 PMID 11518722 . 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. doi :10.1136/jmg.28.12.881 . PMC 1017169 PMID 1757967 . 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 . S2CID 39272385 . 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. PMC 1682231 PMID 8317501 . 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. doi :10.1006/geno.1995.1218 . PMID 8530105 . 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. PMC 1712567 PMID 8981950 . 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 . 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. doi :10.1086/515505 . PMC 1715939 PMID 9326317 . 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. doi :10.1086/301726 . PMC 1376901 PMID 9463333 . 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 . S2CID 20194422 . 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 . S2CID 25832441 . 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 . 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. doi :10.1074/jbc.273.41.26265 PMID 9756849 . 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. doi :10.1086/302532 . PMC 1377975 PMID 10441575 . 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. doi :10.1007/s004390051062 . PMID 10480354 . 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. doi :10.1093/hmg/8.12.2155 PMID 10545594 . 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. Bibcode :2000PNAS...97..668M . doi :10.1073/pnas.97.2.668 PMC 15388 PMID 10639137 . 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 .
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