B3GLCT wt Allele

Preferred Label : B3GLCT wt Allele;

NCIt synonyms : B3GTL; Beta 3-Glucosyltransferase wt Allele; B3Glc-T; B3GALTL; Gal-T; beta3Glc-T;

NCIt definition : Human B3GLCT wild-type allele is located in the vicinity of 13q12.3 and is approximately 132 kb in length. This allele, which encodes beta-1,3-glucosyltransferase, is involved in the elongation of fucosylglycan chains. Mutation of the gene is associated with Peters-plus syndrome.;

NCI Metathesaurus CUI : CL1912915;

GenBank Accession Number : AB101481;

Details

Origin ID

C192716;

UMLS CUI

C5780968;

OMIM relation
- Beta-3-glucosyltransferase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 13q12.3 [NCIt concept]
gene_is_element_in_pathway
- O-Mannosyl Glycan Biosynthesis Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Glycosylation [NCIt concept]
- Protein Glycosylation [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients