GLB1 wt Allele

Preferred Label : GLB1 wt Allele;

NCIt synonyms : BGAL; EBP; MPS4B; ELNR1; Galactosidase, Beta 1 wt Allele;

NCIt definition : Human GLB1 wild-type allele is located in the vicinity of 3p22.3 and is approximately 101 kb in length. This allele, which encodes beta-galactosidase protein, is involved in the hydrolysis of the terminal beta-galactose from ganglioside substrates.;

GenBank Accession Number : NM_000404;

Details

Origin ID

C107437;

UMLS CUI

C3811114;

Automatic exact mappings (from CISMeF team)
- EBP cholestenol delta-isomerase [ORDO Gene]
- Emopamil-binding protein [OMIM gene]
- Galactosidase, beta-1 [OMIM gene]
- Mucopolysaccharidosis type 4B [ORDO Disease]
- Mucopolysaccharidosis, type ivb [OMIM Phenotype]
- Sh3 domain protein 19 [OMIM gene]
- alpha-Fetoproteins [MeSH Descriptor]
- galactosidase beta 1 [ORDO Gene]
- mucopolysaccharidosis type IVB [DO Concept]
OMIM relation
- Galactosidase, beta-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
- 3p22.3 [NCIt concept]
gene_is_element_in_pathway
- Galactose Metabolism Pathway [NCIt concept]
- Ganglioside Biosynthesis Pathway [NCIt concept]
- Glycoprotein Degradation Pathway [NCIt concept]
- Glycosaminoglycan Degradation Pathway [NCIt concept]
- Lysosome Assembly Pathway [NCIt concept]
- Sphingolipid Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Hydrolysis [NCIt concept]
- Lipid Metabolic Process [NCIt concept]
- Protein Metabolism Process [NCIt concept]

Keyword's position in hierarchy(ies) :

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