title: Hereditary multiple exostoses and heparan sulfate polymerization.
abstract: Hereditary multiple exostoses (HME, OMIM 133700, 133701) results from mutations in EXT1 and EXT2, genes encoding the copolymerase responsible for heparan sulfate (HS) biosynthesis. Members of this multigene family share the ability to transfer N-acetylglucosamine to a variety of oligosaccharide acceptors. EXT1 and EXT2 encode the copolymerase, whereas the roles of the other EXT family members (EXTL1, L2, and L3) are less clearly defined. Here, we provide an overview of HME, the EXT family of proteins, and possible models for the relationship of altered HS biosynthesis to the ectopic bone growth characteristic of the disease.
authors.affiliation: Glycobiology Research and Training Center, Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla 92093-0687, USA.
authors.forename: Beverly M
authors.initials: BM
authors.lastname: Zak
authors.forename: Brett E
authors.initials: BE
authors.lastname: Crawford
authors.forename: Jeffrey D
authors.initials: JD
authors.lastname: Esko
mesh_terms: D000818:Animals; D005097:Exostoses, Multiple Hereditary / Q000201:enzymology*; D005346:Fibroblast Growth Factors / Q000378:metabolism; D006497:Heparan Sulfate / Q000096:biosynthesis / Q000378:metabolism*; D006801:Humans; D008565:Membrane Proteins; D009154:Mutation; D017351:N-Acetylglucosaminyltransferases / Q000235:genetics / Q000378:metabolism*; D011108:Polymers; D013329:Structure-Activity Relationship; D025521:Tumor Suppressor Proteins; D000099065:Exostosin 2; D000099058:Exostosin 1
chemical_list: D005346:Fibroblast Growth Factors; D006497:Heparan Sulfate; D008565:Membrane Proteins; D017351:N-Acetylglucosaminyltransferases; D011108:Polymers; D025521:Tumor Suppressor Proteins; D000099065:Exostosin 2; D000099058:Exostosin 1; C110774:EXTL3 protein, human; C121267:EXTL1 protein, human; C110834:EXTL2 protein, human