EXT1 is an endoplasmic reticulum-resident type II transmembrane protein with glycosyltransferase activity, involved in chain elongation of heparan sulfate. Heparan sulfate proteoglycans bind a large number of extracellular proteins, regulating membrane signaling, consequently playing a critical role in cell determination, differentiation, and migration. Germline mutations in EXT1 are responsible for hereditary multiple exostoses (osteochondromas), and EXT1 deletion is also found in tricho-rhino-phalangeal syndrome type II (also called Langer-Giedion syndrome), a contiguous gene deletion syndrome. We also review EXT1 alterations in various cancers.
Jean Loup Huret
EXT1 (exostosin glycosyltransferase 1)
Atlas Genet Cytogenet Oncol Haematol. 2021-01-01
Online version: http://atlasgeneticsoncology.org/gene/212/ext1-(exostosin-glycosyltransferase-1)
2002-03-01 EXT1 (exostosin glycosyltransferase 1) by Judith VMG Bovée
2000-01-01 EXT1 (exostosin glycosyltransferase 1) by Judith VMG Bovée