- Concept UI
- M0274532
- Registry Numbers
- EC 2.4.1.224
- EC 2.4.1.225
- 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.
- Terms
-
Exostosin 1
Preferred Term
Term UI
T001144437
Date05/30/2024
LexicalTag
NON
ThesaurusID
NLM (2025)
-
Exostosin-1
Term UI
T001144369
Date05/17/2024
LexicalTag
NON
ThesaurusID
NLM (2000)
-
EXT1 Heparan Sulfate Copolymerase
Term UI
T001144376
Date05/20/2024
LexicalTag
NON
ThesaurusID
NLM (2000)
-
Heparan Sulfate Copolymerase EXT1
Term UI
T001144377
Date05/20/2024
LexicalTag
NON
ThesaurusID
NLM (2000)
-
Multiple Exostoses Protein 1
Term UI
T001144378
Date05/20/2024
LexicalTag
NON
ThesaurusID
NLM (2006)