• 靶点：
• GALE

• 简介：
• >>Galactose metabolism;>>Amino sugar and nucleotide sugar metabolism;>>Metabolic pathways;>>Biosynthesis of nucleotide sugars

• 基因名称：
• GALE

• 蛋白名称：
• GALE

• Human Gene Id：
• 2582

• Human Swiss Prot No：
• Q14376

• Mouse Gene Id：
• 74246

• Mouse Swiss Prot No：
• Q8R059

• Rat Swiss Prot No：
• P18645

• 免疫原：
• Synthesized peptide derived from human GALE AA range: 104-154

• 特异性：
• This antibody detects endogenous levels of GALE at Human/Mouse/Rat

• 组成：
• Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

• 来源：
• Polyclonal, Rabbit,IgG

• 稀释：
• WB 1：500-2000

• 纯化工艺：
• The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

• 浓度：
• 1 mg/ml

• 储存：
• -15°C to -25°C/1 year(Do not lower than -25°C)

• 分子量：
• 38kD

• 背景：
• 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],

• 功能：
• 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

• 细胞定位：
• cytosol,extracellular exosome,

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