Hereditary multiple exostoses and heparan sulfate polymerization

Biochim Biophys Acta. 2002 Dec 19;1573(3):346-55. doi: 10.1016/s0304-4165(02)00402-6.


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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Animals
  • Exostoses, Multiple Hereditary / enzymology*
  • Fibroblast Growth Factors / metabolism
  • Heparitin Sulfate / biosynthesis
  • Heparitin Sulfate / metabolism*
  • Humans
  • Membrane Proteins*
  • Mutation
  • N-Acetylglucosaminyltransferases / genetics
  • N-Acetylglucosaminyltransferases / metabolism*
  • Polymers
  • Structure-Activity Relationship
  • Tumor Suppressor Proteins*


  • EXTL3 protein, human
  • Membrane Proteins
  • Polymers
  • Tumor Suppressor Proteins
  • Fibroblast Growth Factors
  • Heparitin Sulfate
  • EXTL1 protein, human
  • EXTL2 protein, human
  • N-Acetylglucosaminyltransferases
  • exostosin-1
  • exostosin-2

Associated data

  • OMIM/133700
  • OMIM/133701