GALE Rabbit Polyclonal Antibody Sizes: 50μL, 100μL Catalogue Numbers: RA25203-50, RA25203-100 Lead times: 1-2 weeks, if manufacturer has product in stock Manufacturer/Ship Location: China 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. [provided by RefSeq, Jul 2008], Reactivity: Human, Mouse, Rat Host: Rabbit Applications: WB Clonality: Polyclonal Dilution: WB 1：500-2000 Storage: -20°C/1 year Human Gene ID: 2582 Human SwissProt Number: Q14376 Condition: Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. Research Use Only