EXTL2 wt Allele

Preferred Label : EXTL2 wt Allele;

NCIt synonyms : EXTR2; Exostoses (Multiple)-Like 2 wt Allele;

NCIt definition : Human EXTL2 wild-type allele is located within 1p21 and is approximately 24 kb in length. This allele, which encodes exostosin-like 2 protein, plays a role in the initiation of heparin/heparin sulfate biosynthesis.;

GenBank Accession Number : NM_001439;

Details

Origin ID

C50963;

UMLS CUI

C1707874;

OMIM relation
- Exostosin-like glycosyltransferase 2 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 1: 101072389-101049965 [NCIt concept]
gene_in_chromosomal_location
- 1p21 [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]

Keyword's position in hierarchy(ies) :

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