EXT1 wt Allele

Preferred Label : EXT1 wt Allele;

NCIt synonyms : Exostosin Glycosyltransferase 1 wt Allele; EXT; TRPS2; Langer-Giedion Syndrome Chromosome Region Gene; TTV; LGS; Exostoses (Multiple) 1 Gene; LGCR;

NCIt definition : Human EXT1 wild-type allele is located within 8q24.11-q24.13 and is approximately 312 kb in length. This allele, which encodes exostosin-1 protein, is involved in the chain elongation step of heparin/heparin sulfate biosynthesis. Certain allelic variants of the EXT1 gene cause multiple exostoses type I.;

NCIt note : The EXT1 gene is a putative tumor suppressor gene.;

GenBank Accession Number : S79639;

Details

Origin ID

C50957;

UMLS CUI

C1707871;

OMIM relation
- Exostosin glycosyltransferase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 8: 119193239-118880787 [NCIt concept]
gene_in_chromosomal_location
- 8q24.11-q24.13 [NCIt concept]
gene_involved_in_pathogenesis_of_disease
- Hereditary Multiple Exostoses [NCIt concept]
- Osteochondroma [NCIt concept]
- Trichorhinophalangeal Syndrome Type II [NCIt concept]
gene_is_element_in_pathway
- Glycosaminoglycan Biosynthesis Pathway - Heparan Sulfate [NCIt concept]
gene_plays_role_in_process
- Glycosylation [NCIt concept]
- Heparan Sulfate Biosynthesis [NCIt concept]
- Limb Development [NCIt concept]
- Skeletal Development [NCIt concept]
- Tumor Suppression [NCIt concept]

Keyword's position in hierarchy(ies) :

Main resources

You can consult :

recommendations
documents concerning education
documents for patients