| Descriptor English: | Exostosin 1 |
| Descriptor Spanish: | Exostosina 1 |
| Descriptor Portuguese: | Exostosina 1 |
| Descriptor French: | Without translation |
| Entry term(s): |
EXT1 Heparan Sulfate Copolymerase Exostosin-1 Heparan Sulfate Copolymerase EXT1 Multiple Exostoses Protein 1 |
| Tree number(s): |
D08.811.913.400.001.250 D08.811.913.400.100.250.250 |
| RDF Unique Identifier: | https://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. |
| Allowable Qualifiers: |
AD administration & dosage AE adverse effects AI antagonists & inhibitors AN analysis BI biosynthesis BL blood CF cerebrospinal fluid CH chemistry CL classification CS chemical synthesis DE drug effects DF deficiency EC economics GE genetics HI history IM immunology IP isolation & purification ME metabolism PD pharmacology PH physiology PK pharmacokinetics PO poisoning RE radiation effects SD supply & distribution ST standards TO toxicity TU therapeutic use UL ultrastructure UR urine |
| Public MeSH Note: | 2025; EXOSTOSIN-1 was indexed under N-ACETYLGLUCOSAMINYLTRANSFERASES1997-2024 |
| History Note: | 2025 (1997) |
| DeCS ID: | 60949 |
| Unique ID: | D000099058 |
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents |
| Date Established: | 2025/01/01 |
| Date of Entry: | 2024/08/09 |
| Revision Date: | 2024/07/17 |
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CHEMICALS AND DRUGS
Enzymes and Coenzymes [D08]Enzymes and Coenzymes -
CHEMICALS AND DRUGS
Enzymes and Coenzymes [D08]Enzymes and Coenzymes
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Exostosin 1
- Preferred
| Concept UI |
M0274532 |
| 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. |
| Preferred term | Exostosin 1 |
| Entry term(s) |
EXT1 Heparan Sulfate Copolymerase Exostosin-1 Heparan Sulfate Copolymerase EXT1 Multiple Exostoses Protein 1 |
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