GO curators for mouse genes have assigned the following annotations to the gene product of Gale. (This text reflects annotations as of Wednesday, August 14, 2013.) MGI curation of this mouse gene is considered complete, including annotations derived from the biomedical literature as of May 8, 2008. If you know of any additional information regarding this mouse gene please let us know. Please supply mouse gene symbol and a PubMed ID.Summary from NCBI RefSeq
[Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes UDP-galactose-4-epimerase which catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose, and the epimerization of UDP-N-acetylglucosamine to UDP-N-acetylgalactosamine. The bifunctional nature of the enzyme has the important metabolic consequence that mutant cells (or individuals) are dependent not only on exogenous galactose, but also on exogenous N-acetylgalactosamine as a necessary precursor for the synthesis of glycoproteins and glycolipids. Mutations in this gene result in epimerase-deficiency galactosemia, also referred to as galactosemia type 3, a disease characterized by liver damage, early-onset cataracts, deafness and mental retardation, with symptoms ranging from mild ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008]Summary text based on GO annotations supported by experimental evidence in mouse
Researchers have inferred from direct assay, that the gene product of Gale
participates in the following biological processes:
Annotations directly to cellular component for the gene Gale indicate that MGI curators have found no experimental data [literature] to support further annotation to this category at this time.
Yager C et al. (2004) Galactitol and galactonate accumulation in heart and skeletal muscle of mice with deficiency of galactose-1-phosphate uridyltransferase. Mol Genet Metab, 81:105-11. (PubMed:14741191)