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.
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Protein Aliases: galactose-4-epimerase, UDP; galactose-4-epimerase, UDP-; Galactowaldenase; GALE; short chain dehydrogenase/reductase family 1E, member 1; UDP galactose-4'-epimerase; UDP-galactosamine 4-epimerase; UDP-galactose 4-epimerase; UDP-galactose-4-epimerase; UDP-GalNAc 4-epimerase; UDP-GlcNAc 4-epimerase; UDP-glucose 4-epimerase; UDP-N-acetylgalactosamine 4-epimerase; UDP-N-acetylglucosamine 4-epimerase
Gene Aliases: EGK_00373; GALE; SDR1E1
UniProt ID: (Human) Q14376