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Exostosin 1 MeSH Descriptor Data 2025


MeSH Heading
Exostosin 1
Tree Number(s)
D08.811.913.400.001.250
D08.811.913.400.100.250.250
Unique ID
D000099058
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D000099058
Scope Note
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.
Entry Term(s)
EXT1 Heparan Sulfate Copolymerase
Exostosin-1
Heparan Sulfate Copolymerase EXT1
Multiple Exostoses Protein 1
Registry Numbers
EC 2.4.1.224
EC 2.4.1.225
Public MeSH Note
2025; EXOSTOSIN-1 was indexed under N-ACETYLGLUCOSAMINYLTRANSFERASES1997-2024
History Note
2025 (1997)
Date Established
2025/01/01
Date of Entry
2024/08/09
Revision Date
2024/07/17
Exostosin 1 Preferred
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