{"symbol":"GALE","synonyms":["SDR1E1"],"name":"UDP-galactose-4-epimerase","description":"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 cognitive disability, with symptoms ranging from mild (\u0027peripheral\u0027 form) to severe (\u0027generalized\u0027 form). Multiple alternatively spliced transcripts encoding the same protein have been identified. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":2582,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/2582","proteins":[{"symbol":"GALE_HUMAN","href":"/api/1.0/protein/GALE_HUMAN"}],"hgncRootFamilies":[{"name":"Short chain dehydrogenase/reductase superfamily (SDR)","href":"/api/1.0/gene_family/Short+chain+dehydrogenase%24slash%24reductase+superfamily+%28SDR%29"}]}