Gene Symbol | EXT1 |
Entrez Gene ID | 2131 |
Full Name | exostosin glycosyltransferase 1 |
Synonyms | EXT,LGCR,LGS,TRPS2,TTV |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Exostoses, multiple, type 1, 133700 (3); Chondrosarcoma, 215300 (3) |