EXT1 - Gene Detail
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| Gene Symbol | EXT1 | ||||||||||||
| Synonyms | EXT | LGCR | LGS | TRPS2 | TTV | ||||||||||||
| Gene Description | EXT1, exostosin glycosyltransferase 1, forms a hetero-oligomeric complex with EXT2 in the Golgi, which has glycosyltransferase activity (PMID: 10639137) and is involved in biosynthesis of heparan sulfate (PMID: 9756849, PMID: 11256613). Germline mutations in EXT1 and loss of heterozygosity are associated with hereditary multiple exostoses (PMID: 9463333, PMID: 8981950), and multiple osteochondromas (PMID: 24009674, PMID: 39336760), and have been identified in osteochondroma and chondrosarcoma (PMID: 10441575, PMID: 20418910). | ||||||||||||
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