A375 cells were subjected to SDS PAGE followed by western blot with FNab03309(GALE antibody) at dilution of 1:1000
Immunohistochemical of paraffin-embedded human malignant melanoma using FNab03309(GALE antibody) at dilution of 1:100
Immunofluorescence analysis of A549 cells using FNab03309(GALE antibody) at dilution of 1:50
Background
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.