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
|
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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