EXTL1 wt Allele

Preferred Label : EXTL1 wt Allele;

NCIt synonyms : EXL1; EXTL; Exostoses (Multiple)-Like 1 wt Allele;

NCIt definition : Human EXTL1 wild-type allele is located in the vicinity of 1p36.1 and is approximately 15 kb in length. This allele, which encodes exostosin-like 1 protein, is involved in the synthesis of the repeating disaccharide region of heparin/heparin sulfate.;

GenBank Accession Number : NM_004455;

Details

Origin ID

C50961;

UMLS CUI

C1707873;

OMIM relation
- Exostosin-like glycosyltransferase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 1: 26032413-26047074 [NCIt concept]
gene_in_chromosomal_location
- 1p36.1 [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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