exostosin glycosyltransferase 1
Alias
EXT | LGCR | LGS | TRPS2 | TTV
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].