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Medical Subject Headings
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/MESH/D000099065
http://purl.bioontology.org/ontology/MESH/D000099065
|
|---|---|
| Preferred Name | Exostosin 2 |
| Definitions |
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.
|
| Synonyms |
Multiple Exostoses Protein 2
Exostosin-2
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| definition | 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. |
|---|---|
| altLabel |
Multiple Exostoses Protein 2
Exostosin-2
|
| prefLabel | Exostosin 2
|
| Machine permutation | 2025; EXOSTOSIN-2 was indexed under N-ACETYLGLUCOSAMINYLTRANSFERASES 1996-2024
|
| HN | 2025 (1996)
|
| Mapped from | |
| type | |
| tui |
T116
T123
|
| TERMUI |
T001144441
T001144440
T001144439
|
| TH | NLM (2025)
|
| MMR | 20250101
|
| notation | D000099065
|
| Semantic type UMLS property | |
| Inverse of AQ |
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|
| DX | 20250101
|
| cui | C0529768
|
| DC | 1
|
| MN |
D08.811.913.400.001.300
D08.811.913.400.100.250.300
|
| AQL | AD AE AI AN BI BL CF CH CL CS DE DF EC GE HI IM IP ME PD PH PK PO RE SD ST TO TU UL UR
|
| Inverse of RB |
EC 2.4.1.224
EC 2.4.1.225
|
| MDA | 20240531
|
| subClassOf |
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |