Exostoses 1 (EXT1)

EXT; Ttv; LGCR, LGS; Langer-Giedion Syndrome Chromosome Region; Glucuronosyl-N-acetylglucosaminyl-Proteoglycan 4-Alpha-N-Acetylglucosaminyltransferase

SPN	Q568
HGNC	3512
MGI	894663
PubMed	18216313
RGD	1587375
UniProt	Q16394
Wiki	EXT1

Exostosin-1 is 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.By screening a human chondrocyte cDNA library with cosmids that spanned breakpoints on chromosome 8q identified in patients with multiple exostoses type I, Ahn et al. (1995) identified a cDNA encoding a putative 746-amino acid protein with a molecular mass of 86.3 kD. Northern blot analysis detected expression of a 3.4-kb transcript in all tissues tested, with highest levels in liver. The authors noted that the breakpoint region in the EXT1 gene contains 2 identical polypyrimidine tracts (CCCCCCT) that are known to be deletion hotspots, similar to the retinoblastoma gene.

Reference

"Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)."
Nat. Genet. 11:137-143(1995) [PubMed] [Europe PMC] [Abstract]

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

"Genomic organization and promoter structure of the human EXT1 gene."
Genomics 40:351-354(1997) [PubMed] [Europe PMC] [Abstract]

"Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus."
Biochem. Biophys. Res. Commun. 268:860-867(2000) [PubMed] [Europe PMC] [Abstract]

"The link between heparan sulfate and hereditary bone disease: finding a function for the EXT family of putative tumor suppressor proteins."
J. Clin. Invest. 108:511-516(2001) [PubMed] [Europe PMC] [Abstract]

"Molecular basis of multiple exostoses: mutations in the EXT1 and EXT2 genes."
Hum. Mutat. 15:220-227(2000) [PubMed] [Europe PMC] [Abstract]

"Spectrum of EXT1 mutations in hereditary multiple exostoses."
Am. J. Hum. Genet. 59:A280-A280(1996)

"Hereditary multiple exostoses (EXT): mutational studies of familial EXT1 cases and EXT-associated malignancies."
Am. J. Hum. Genet. 60:80-86(1997) [PubMed] [Europe PMC] [Abstract]

"Mutation screening of the EXT1 and EXT2 genes in patients with hereditary multiple exostoses."
Am. J. Hum. Genet. 61:520-528(1997) [PubMed] [Europe PMC] [Abstract]

"Mutations in the EXT1 and EXT2 genes in hereditary multiple exostoses."
Am. J. Hum. Genet. 62:346-354(1998) [PubMed] [Europe PMC] [Abstract]

"Evaluation of locus heterogeneity and EXT1 mutations in 34 families with hereditary multiple exostoses."
Hum. Mutat. 11:231-239(1998) [PubMed] [Europe PMC] [Abstract]

"EXT-mutation analysis and loss of heterozygosity in sporadic and hereditary osteochondromas and secondary chondrosarcomas."
Am. J. Hum. Genet. 65:689-698(1999) [PubMed] [Europe PMC] [Abstract]

"Mutation analysis of hereditary multiple exostoses in the Chinese."
Hum. Genet. 105:45-50(1999) [PubMed] [Europe PMC] [Abstract]

"Diminished levels of the putative tumor suppressor proteins EXT1 and EXT2 in exostosis chondrocytes."
Cell Motil. Cytoskeleton 48:149-162(2001) [PubMed] [Europe PMC] [Abstract]

"Etiological point mutations in the hereditary multiple exostoses gene EXT1: a functional analysis of heparan sulfate polymerase activity."
Am. J. Hum. Genet. 69:55-66(2001) [PubMed] [Europe PMC] [Abstract]