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GALE Rabbit Polyclonal Antibody - RA25203

GALE Rabbit Polyclonal Antibody - RA25203

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GALE Rabbit Polyclonal Antibody Sizes: 50μL, 100μL Catalogue Numbers: RA25203-50, RA25203-100 Citations, Manuals and MSDS Available upon request. 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], Condition: Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. Storage Instructions: -20°C/1 year Recommended dilutions: WB 1:500-2000 Applications: WB Species Cross-Reactivity: Human; Mouse; Rat GeneID (Human): 2582 SWISS: Q14376 Source: Rabbit Research Use Only
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