GALM wt Allele

Preferred Label : GALM wt Allele;

NCIt synonyms : Galactose Mutarotase wt Allele; BLOCK25; Gal Plus Activator Gene; GLAT; HEL-S-63p; GALAC4; Galactose Enzyme Activator Gene; IBD1;

NCIt definition : Human GALM wild-type allele is located in the vicinity of 2p22.1 and is approximately 75 kb in length. This allele, which encodes galactose mutarotase protein, is involved in carbohydrate metabolism. Mutation of the gene is associated with galactosemia type 4.;

NCI Metathesaurus CUI : CL1798490;

GenBank Accession Number : NM_138801;

Details

Origin ID

C190011;

UMLS CUI

C5702591;

Automatic exact mappings (from CISMeF team)
- Galactosemia iv [OMIM Phenotype]
- Inflammatory bowel disease (crohn disease) 1 [OMIM Phenotype]
- inflammatory bowel disease 1 [DO Concept]
OMIM relation
- Galactose mutarotase [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
Validated automatic mappings to NTBT
- Galactose mutarotase [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Galactose Metabolism Pathway [NCIt concept]
- Glycolysis/Gluconeogenesis Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]
- Gluconeogenic Process [NCIt concept]
- Glycolysis [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients