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EXT1 - exostosin glycosyltransferase 1
- Synonym(s) : Glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N- acetylglucosaminyltransferase, N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase, ttv
- Previous symbols and names : Exostoses (multiple) 1, LGCR, LGS, Langer-Giedion syndrome chromosome region, exostoses (multiple) 1, exostosin 1
- Type : gene with protein product
- Chromosomal location : 8q24.11
- OMIM: 608177
- HGNC: 3512
- UniProtKB: Q16394
- Genatlas: EXT1
- GenCC: EXT1
- Ensembl: ENSG00000182197
- IUPHAR-DB: -
- Reactome: Q16394
- LOVD: EXT1
Diseases list
- Disease-causing germline mutation(s) in Multiple osteochondromas
ORPHA:321 
- Role in the phenotype of Trichorhinophalangeal syndrome type 2
ORPHA:502 - Candidate gene tested in Chondrosarcoma
ORPHA:55880
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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