Exostosin 1 - CISMeF

Preferred Label : Exostosin 1;

MeSH definition : 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.;

MeSH synonym : Exostosin-1; EXT1 Heparan Sulfate Copolymerase; Heparan Sulfate Copolymerase EXT1; Multiple Exostoses Protein 1;

UNII : EC 2.4.1.225;

Details

Origin ID

D000099058;

UMLS CUI

C0537447;

Allowable qualifiers
- administration and dosage [MeSH Qualifier]
- adverse effects [MeSH Qualifier]
- analysis [MeSH Qualifier]
- antagonists and inhibitors [MeSH Qualifier]
- biosynthesis [MeSH Qualifier]
- blood [MeSH Qualifier]
- cerebrospinal fluid [MeSH Qualifier]
- chemical synthesis [MeSH Qualifier]
- chemistry [MeSH Qualifier]
- classification [MeSH Qualifier]
- deficiency [MeSH Qualifier]
- drug effects [MeSH Qualifier]
- economics [MeSH Qualifier]
- genetics [MeSH Qualifier]
- history [MeSH Qualifier]
- immunology [MeSH Qualifier]
- isolation and purification [MeSH Qualifier]
- metabolism [MeSH Qualifier]
- pharmacokinetics [MeSH Qualifier]
- pharmacology [MeSH Qualifier]
- physiology [MeSH Qualifier]
- poisoning [MeSH Qualifier]
- radiation effects [MeSH Qualifier]
- standards [MeSH Qualifier]
- supply and distribution [MeSH Qualifier]
- therapeutic use [MeSH Qualifier]
- toxicity [MeSH Qualifier]
- ultrastructure [MeSH Qualifier]
- urine [MeSH Qualifier]
Record concept(s)
- Exostosin 1 [MeSH concept]
Related MeSH Supplementary Concept(s)
- EXT1 protein, human [MeSH Supplementary Concept]
- Ext1 protein, mouse [MeSH Supplementary Concept]
- XEXT1 protein, Xenopus [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Exostosin glycosyltransferase 1 [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Enzyme [UMLS semantic type]
Validated automatic mappings to BTNT
- Exostosin-1 [NCIt concept]

Keyword's position in hierarchy(ies) :

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