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 EXT2, coding for this protein (as well as mutations in other genes), are responsible for defects in heparan sulfate synthesis resulting in chromosome 11-linked HEREDITARY MULTIPLE EXOSTOSES. Exostosin 2, along with EXOSTOSIN 1, is a component of heparan sulfate polymerase.
MeSH Record
Classification
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MeSH Record
Synonyms
2 entry terms
- Exostosin-2
- Multiple Exostoses Protein 2
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 (1996)
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AMA Style
References
- National Library of Medicine. Exostosin 2. Medical Subject Headings (MeSH). 2026. Unique ID D000099065. http://id.nlm.nih.gov/mesh/2026/D000099065
- Exostosin 2. In: Wikidata. https://www.wikidata.org/wiki/Q24777242