EXTL3 wt Allele

Preferred Label : EXTL3 wt Allele;

NCIt synonyms : KIAA0519; EXTR1; REG; Exostoses (Multiple)-Like 3 wt Allele; RPR;

NCIt definition : Human EXTL3 wild-type allele is located within 8p21 and is approximately 52 kb in length. This allele, which encodes exostosin-like 3 protein, is involved in both chain initiation and elongation during heparin/heparin sulfate biosynthesis.;

GenBank Accession Number : NM_001440;

Details

Origin ID

C50964;

UMLS CUI

C1705631;

OMIM relation
- Exostosin-like glycosyltransferase 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_has_physical_location
- 8: 28626893-28667121 [NCIt concept]
gene_in_chromosomal_location
- 8p21 [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) :

You can consult :

recommendations
documents concerning education
documents for patients