Entrez gene ID | | 2131 |
Official gene symbol | | EXT1 |
Full name | | exostosin 1 |
Aliases | | ,EXT,LGCR,LGS,TRPS2,TTV, |
Gene summary | | This gene encodes 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. [provided by RefSeq] |
Location | | Chromosome: 8 Locus: 8q24.11-q24.13 |
Gene position | | 119124058 - 118811602 Map Viewer |
Gene orientation | | minus |
Gene size | | 312457 bp |
Gene sequence |
| |
OMIM ID | | 608177 |
|