Background

This gene GALE 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.

Images

Western blotting analysis using anti-GALE antibody (Cat#64809). Total cell lysates (30 μg) from various cell lines were loaded and separated by SDS-PAGE. The blot was incubated with anti-GALE antibody (Cat#……, 1:2,500) and HRP-conjugated goat anti-mouse secondary antibody (Cat#101, 1:20,000) respectively. Image was developed using NaQ™ ECL Substrate Kit (Cat#716).

Western blotting analysis using anti-GALE antibody (Cat#64809). 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 anti-GALE antibody (Cat#64809, 1:2,500) and HRP-conjugated goat anti-mouse secondary antibody (Cat#101, 1:20,000) respectively. Image was developed using FeQ™ ECL Substrate Kit (Cat#226).

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