B4GALT1 wt Allele

Preferred Label : B4GALT1 wt Allele;

NCIt synonyms : GT1; beta4Gal-T1; UDP-Gal:BetaGlcNAc Beta 1,4- Galactosyltransferase, Polypeptide 1 wt Allele; GGTB2; B4GAL-T1; CDG2D; GTB;

NCIt definition : Human B4GALT1 wild-type allele is located in the vicinity of 9p13 and is approximately 63 kb in length. This allele, which encodes beta-1,4-galactosyltransferase 1 protein, is involved in lactose synthesis. Mutation of the gene is associated with congenital disorder of glycosylation type 2D.;

GenBank Accession Number : X14085;

Details

Origin ID

C104852;

UMLS CUI

C3537450;

Automatic exact mappings (from CISMeF team)
- B4GALT1-CDG [ORDO Disease]
- Beta-1,4-galactosyltransferase 1 [OMIM gene]
- Congenital disorder of glycosylation, type iid [OMIM Phenotype]
- beta-1,4-galactosyltransferase 1 [ORDO Gene]
- congenital disorder of glycosylation type IId [DO Concept]
- congenital disorder of glycosylation, type IIID [MeSH Supplementary Concept]
- myosin light chain 4 [ORDO Gene]
OMIM relation
- Beta-1,4-galactosyltransferase 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9p13 [NCIt concept]
gene_is_element_in_pathway
- Blood Group Glycolipid Biosynthesis - Lacto and Neolacto Series Pathway [NCIt concept]
- Galactose Metabolism Pathway [NCIt concept]
- Glycosaminoglycan Biosynthesis Pathway - Keratan Sulfate [NCIt concept]
- N-Glycan Biosynthesis Pathway [NCIt concept]
- 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) :

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