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.
GALE; UDP-galactose-4-epimerase; galactose 4 epimerase, UDP; UDP-glucose 4-epimerase; SDR1E1; short chain dehydrogenase/reductase family 1E; member 1; UDP glucose 4 epimerase; FLJ95174; FLJ97302; Galactose 4 epimerase UDP; Galactowaldenase; GALE_HUMAN; OTTHUMP00000002991; OTTHUMP00000002994; OTTHUMP00000037931; OTTHUMP00000044857; short chain dehydrogenase/reductase family 1E member 1; UDP galactose 4 epimerase; UDP-galactose 4-epimerase; UDP galactose-4-epimerase; galactose-4-epimerase, UDP-; short chain dehydrogenase/reductase family 1E, member 1; im:7147391; wu:fb05f01; zgc:136578; fb05f01