| Primary Identifier | IPR027670 | Type | Family |
| Short Name | Exostosin-1 |
| description | There are five identified human EXT family proteins (EXT1, EXT2, EXTL1, EXTL2 and EXTL3), which are members of the hereditary multiple exostoses family of tumor suppressors []. Exostosin-1 (EXT1) is a glycosyltransferase required for the biosynthesis of heparan-sulfate []. Hereditary multiple exostoses, a genetic disorder characterised by multiple cartilaginous tumors, is caused by mutations in members of the EXT gene family, EXT1 or EXT2. EXT1 and EXT2 form a hetero-oligomeric complex that leads to the accumulation of both proteins in the Golgi apparatus []. |
