Recombinant Human GAMT Protein (His Tag)
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- 表达系统： E.coli
- 蛋白编码： Q14353
| 别称 |
Guanidinoacetate N-methyltransferase;GAMT;PIG2;TP53I2
|
| 表达系统 |
E.coli
|
| 序列 |
Met 1-Gly236
|
| 蛋白编码 |
Q14353
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| 种属 |
Human
|
| 计算分子量 |
29.5 kDa
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| 表观分子量 |
27-32 kDa
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| 标签 |
N-His & C-His
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| 纯度 |
> 90 % as determined by reducing SDS-PAGE.
|
| 内毒素 |
< 1.0 EU per μg of the protein as determined by the LAL method.
|
| 保存条件 |
Store at < -20°C, stable for 6 months. Please minimize freeze-thaw cycles.
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| 运输条件 |
This product is provided as liquid. It is shipped at frozen temperature with blue ice/gel packs. Upon receipt, store it immediately at < - 20°C.
|
| 制剂 |
Supplied as a 0.2 μm filtered solution of 20mM Tris-HCl, 1mM DTT, pH 8.0.
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| 复溶方法 |
Not Applicable
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| 背景 |
GAMT is a methyltransferase which belongs to the class I-like SAM-binding methyltransferase superfamily. It contains one RMT2 (arginine N-methyltransferase 2-like) domain and is expressed in liver. GAMT converts guanidoacetate to creatine, using S-adenosylmethionine as the methyl donor. Defects in GAMT are the cause of guanidinoacetate methyltransferase deficiency, which is an autosomal recessive disorder characterized by developmental delay/regression, mental retardation, severe disturbance of expressive and cognitive speech, intractable seizures and movement disturbances, severe depletion of creatine/phosphocreatine in the brain, and accumulation of guanidinoacetic acid in brain and body fluids.
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实验操作视频
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