GALE rabbit pAb

SKU: ES16281

Size: 100μL

Source:Rabbit

Applications:WB

Reactivity:Human; Mouse;Rat

Dilution:WB 1：500-2000

Immunogen:Synthesized peptide derived from human GALE AA range: 104-154

Storage_stability:-20°C/1 year

Clonality:Polyclonal

Isotype:IgG

Concentration:1 mg/ml

Observed_band(KD):

Human_gene_id:2582

Human_swiss_prot_no:Q14376

Subcellular_location:cytosol,extracellular exosome,

Other_name:

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],