From Wikipedia, the free encyclopedia
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 .
External links