
| Source: | Rabbit | Gene Id: | 2582 | 
| Isotype: | IgG | Swiss Prot: | Q14376 | 
| purity: | Affinity purification | 
| 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. | 
| Reactivity | Human | 
| Tested applications | WB IHC | 
| Clonality | Polyclonal Antibody | 
| Calculated MW | 38kDa | 
| Recommended Dilutions | 
                                     WB 1:500 - 1:2000 
                                    IHC 1:50 - 1:200 
                                    
                                    
                                    
                                    
                                    
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| Immunogen | A recombinant protein of human GALE | 
| Storage | Store at -20oC (regular) or -80oC (long term). Avoid freeze / thaw cycles. Buffer: PBS with 0.02% sodium azide, 50% glycerol, pH7.3. | 
| Synonym | SDR1E1 | 
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