GALE wt Allele

Preferred Label : GALE wt Allele;

NCIt synonyms : THC13; SDR1E1; Galactose Epimerase Gene; Galactose-4-Epimerase, UDP- Gene; UDP-Galactose-4-Epimerase wt Allele; Short Chain Dehydrogenase/Reductase Family 1E, Member 1 Gene;

NCIt definition : Human GALE wild-type allele is located in the vicinity of 1p36.11 and is approximately 5 kb in length. This allele, which encodes UDP-glucose 4-epimerase protein, is involved in the reversible epimerization of glucose to galactose for precursor molecules involved in cellular metabolism and the synthesis of glycoproteins and glycolipids. Mutations in the gene are associated with galactosemia 3 (galactose epimerase deficiency) and syndromic thrombocytopenia 13.;

GenBank Accession Number : BC050685;

Détails

Origin ID

C216208;

OMIM relation
- Udp-galactose-4-epimerase [OMIM gene]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 1p36.11 [NCIt concept]
gene_is_element_in_pathway
- Amino and Nucleotide Sugars Metabolism Pathway [NCIt concept]
- Ephrin B Forward Signaling Pathway [NCIt concept]
- Ephrin B Reverse Signaling Pathway [NCIt concept]
- Galactose Metabolism Pathway [NCIt concept]
gene_plays_role_in_process
- Carbohydrate Metabolic Process [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients