GALE Rabbit 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 symptoms ranging from mild (' peripheral' form) to severe (' generalized' form). Multiple alternatively spliced transcripts encoding the same protein have been identified.

1 mg/ml

38280