- Concept UI
- M0265859
- 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 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.
- Terms
-
Exostosin 2
Preferred Term
Term UI
T001144439
Date05/31/2024
LexicalTag
NON
ThesaurusID
NLM (2025)
-
Exostosin-2
Term UI
T001144440
Date05/31/2024
LexicalTag
NON
ThesaurusID
NLM (2025)
-
Multiple Exostoses Protein 2
Term UI
T001144441
Date05/31/2024
LexicalTag
NON
ThesaurusID
NLM (2025)