Chemicals and Drugs

Exostosin 1

A bifunctional glycosyltransferase involved in transferring GLUCURONIC ACID and N-ACETYLGLUCOSAMINE in the elongation of HEPARAN SULFATE chains. Mutations in the gene EXT1, coding for this protein (as well as mutations in other genes), are responsible for defects in heparan sulfate synthesis resulting in HEREDITARY MULTIPLE EXOSTOSES. Exostosin-1, along with EXOSTOSIN-2, is a component of heparan sulfate polymerase.

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

A bifunctional glycosyltransferase involved in transferring GLUCURONIC ACID and N-ACETYLGLUCOSAMINE in the elongation of HEPARAN SULFATE chains. Mutations in the gene EXT1, coding for this protein (as well as mutations in other genes), are responsible for defects in heparan sulfate synthesis resulting in HEREDITARY MULTIPLE EXOSTOSES. Exostosin-1, along with EXOSTOSIN-2, is a component of heparan sulfate polymerase.

MeSH Record

Classification

Broader headings

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MeSH Record

Synonyms

4 entry terms
  • EXT1 Heparan Sulfate Copolymerase
  • Exostosin-1
  • Heparan Sulfate Copolymerase EXT1
  • Multiple Exostoses Protein 1

MeSH Record

Aspects Covered

29 allowable subheadings

Indexed with the subheadings administration & dosage, adverse effects, analysis, antagonists & inhibitors, biosynthesis, blood, cerebrospinal fluid, chemical synthesis, chemistry, classification, deficiency, drug effects, economics, genetics, history, immunology, isolation & purification, metabolism, pharmacokinetics, pharmacology, physiology, poisoning, radiation effects, standards, supply & distribution, therapeutic use, toxicity, ultrastructure, urine.

MeSH Record

History Note

2025 (1997)

MeSH Hierarchy

Tree Numbers

  1. D08.811w.913w.400w.001.250
  2. D08.811w.913w.400w.100.250.250

AMA Style

References

  1. National Library of Medicine. Exostosin 1. Medical Subject Headings (MeSH). 2026. Unique ID D000099058. http://id.nlm.nih.gov/mesh/2026/D000099058
  2. Exostosin 1. In: Wikidata. https://www.wikidata.org/wiki/Q24777799