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 ('peripheral' form) to severe ('generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified.

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Flow cytometric analysis of GALE expression in HepG2 cells using GALE antibody . Green, isotype control; red, GALE.

Immunocytochemical staining of HepG2 cells with GALE antibody . Nuclei were stained blue with DAPI; associated protein was stained magenta with Alexa Fluor® 647. Images were taken using Leica stellaris 5. GALE based on laser Intensity and smart gain: Medium. Scale bar, 20 μm.

Western blotting analysis using GALE antibody . Total cell lysates (30 μg) from various cell lines were loaded and separated by SDS-PAGE. The blot was incubated with GALE antibody and HRP-conjugated goat anti-mouse secondary antibody respectively. Image was developed using NaQ™ ECL Substrate Kit .

Western blotting analysis using GALE antibody . GALE expression in wild-type (WT) and GALE shRNA knockdown (KD) HeLa cells with 20 μg of total cell lysates. Hsp90 α serves as a loading control. The blot was incubated with GALE antibody and HRP-conjugated goat anti-mouse secondary antibody respectively. Image was developed using FeQ™ ECL Substrate Kit .

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