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GALE rabbit pAb
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ES16281
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50 µL $148.00
100 µL $248.00
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Overview

Product name: GALE rabbit pAb
Reactivity: Human; Mouse;Rat
Source: Rabbit
Dilutions: WB 1：500-2000
Immunogen: Synthesized peptide derived from human GALE AA range: 104-154
Storage: -20°C/1 year
Clonality: Polyclonal
Isotype: IgG
Concentration: 1 mg/ml
Molecular Weight: 38kD
GeneID: 2582
Human Swiss-Prot No: Q14376
Cellular localization: cytosol,extracellular exosome,
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],