Overview
| 别名 | Galactose mutarotase; Aldose 1-epimerase |
| 基因名 | GALM |
| UniProt ID | Q96C23 |
| 反应种属 | Human |
| 应用 | WB,IHC-P |
| 宿主 | Mouse |
| 偶联物 | Unconjugated |
| 修饰 | Unmodified |
| 亚型 | IgG1 |
| 克隆号 | 7D1-C5-F7 |
| 克隆性 | Monoclonal Antibody |
| 分子量 | Calculated MW: 37 kDa |
| 纯化方式 | Affinity Purified |
| 产品形式 | Liquid |
| 推荐稀释比 | WB-1:1000; IHC-1:100-1:200 |
| 存储缓冲液 | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.09% sodium azide |
| 保存温度 | Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles. |
| 背景信息 | Galactose mutarotase (GALM) is a human enzyme responsible for the reversible interconversion of alpha- and beta-anomers of D-galactose. This epimerization is essential for maintaining the equilibrium required for the Leloir pathway of galactose metabolism and the biosynthesis of complex oligosaccharides in glycoproteins and glycolipids. The enzyme utilizes a catalytic mechanism involving key residues such as Glu304 and His170 to facilitate substrate positioning and proton transfer. GALM expression is upregulated by retinoic acid in myeloid cells, supporting carbohydrate metabolism and cell surface glycan production. Pathogenic variants in the GALM gene are the primary cause of Galactose Mutarotase Deficiency, an autosomal recessive disorder characterized by neonatal-onset failure to thrive, hypoglycemia, elevated galactose levels, liver dysfunction, and cataracts. |
检测原理