{"symbol":"EXT1","synonyms":["EXT","TRPS2","LGCR","TTV"],"name":"exostosin glycosyltransferase 1","description":"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]","ncbiEntrezGeneId":2131,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/2131","proteins":[{"symbol":"EXT1_HUMAN","href":"/api/1.0/protein/EXT1_HUMAN"}],"hgncRootFamilies":[{"name":"Glycosyltransferases","href":"/api/1.0/gene_family/Glycosyltransferases"}]}