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Description
GALE Polyclonal Antibody. 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 symp
Immunogen
n/a
Other Names
SDR1E1, UDP galactose-4'-epimerase, UDP-galactose 4-epimerase, UDP-glucose 4-epimerase, galactose-4-epimerase, UDP-, galactowaldenase, short chain dehydrogenase/reductase family 1E, member 1