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Upingbio
SKU:YP-Ab-11351-100UL
GALE rabbit pAb
GALE rabbit pAb
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- Gene Name: GALE
- Immunogen: Synthesized peptide derived from human GALE AA range: 104-154
- Specificity: This antibody detects endogenous levels of GALE at Human/Mouse/Rat
- Composition: Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
- Source: Polyclonal, Rabbit,IgG
- Dilution ratio: WB 1:500-2000
- Purification process: The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
- Concentration: 1 mg/ml
- Storage: -20°C/1 year
- 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],
- Function: catalytic activity:UDP-glucose = UDP-galactose.,cofactor:NAD.,disease:Defects in GALE are the cause of epimerase-deficiency galactosemia (EDG) [MIM:230350]; also known as galactosemia type 3. Clinical features include early-onset cataracts, liver damage, deafness and mental retardation. There are two clinically distinct forms of EDG. (1) A benign, or 'peripheral' form with no detectable GALE activity in red blood cells and characterized by mild symptoms. Some patients may suffer no symptoms beyond raised levels of galactose-1-phosphate in the blood. (2) A much rarer 'generalized' form with undetectable levels of GALE activity in all tissues and resulting in severe features such as restricted growth and mental development.,function:Catalyzes two distinct but analogous reactions: the epimerization of UDP-glucose to UDP-galactose and the epimerization of UDP-N-acetylglucosamine to UDP-N-ace
- Species: Human; Mouse;Rat
- Range: WB
- Protein: GALE
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