EXT1, Official Symbol EXT1provided by HGNC Official Full Name exostosin glycosyltransferase 1provided by HGNC Primary source HGNC:HGNC:3512 See related Ensembl:ENSG00000182197 MIM:608177; AllianceGenome:HGNC:3512 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as EXT; LGS; TTV; LGCR; TRPS2 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] Expression Ubiquitous expression in duodenum (RPKM 18.7), small intestine (RPKM 16.2) and 25 other tissues See more Orthologs mouse all