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ALR Protein, Human, Recombinant (His)
产品编号 TMPY-00368
Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach. Using homozygosity mapping, we discovered that a mutation in the GFER gene causes an infantile mitochondrial disorder.
ALR Protein, Human, Recombinant (His)
产品编号 TMPY-00368
Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach. Using homozygosity mapping, we discovered that a mutation in the GFER gene causes an infantile mitochondrial disorder.
| 规格 | 价格 | 库存 | 数量 |
|---|---|---|---|
| 100 μg | ¥ 4,460 | 5日内发货 |
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产品信息
| 生物活性 | Activity testing is in progress. It is theoretically active, but we cannot guarantee it. If you require protein activity, we recommend choosing the eukaryotic expression version first. |
| 产品描述 | Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach. Using homozygosity mapping, we discovered that a mutation in the GFER gene causes an infantile mitochondrial disorder. |
| 种属 | Human |
| 表达系统 | HEK293 Cells |
| 标签 | C-His |
| 蛋白编号 | P55789-1 |
| 别名 | HSS,HPO2,HPO1,HPO,HERV1,growth factor, augmenter of liver regeneration,ERV1,ALR |
| 蛋白构建 | A DNA sequence encoding the human GFER (NP_005253.3) (Met1-Asp125) was expressed with a polyhistidine tag at the C-terminus. Predicted N terminal: Met |
| 蛋白纯度 | > 90 % as determined by SDS-PAGE. |
| 分子量 | 16.5 kDa (predicted) |
| 内毒素 | < 1.0 EU/μg of the protein as determined by the LAL method. |
| 缓冲液 | Lyophilized from a solution filtered through a 0.22 μm filter, containing PBS, pH 7.4. Typically, a mixture containing 5% to 8% trehalose, mannitol, and 0.01% Tween 80 is incorporated as a protective agent before lyophilization. |
| 复溶方法 | A Certificate of Analysis (CoA) containing reconstitution instructions is included with the products. Please refer to the CoA for detailed information. |
| 存储 | It is recommended to store recombinant proteins at -20°C to -80°C for future use. Lyophilized powders can be stably stored for over 12 months, while liquid products can be stored for 6-12 months at -80°C. For reconstituted protein solutions, the solution can be stored at -20°C to -80°C for at least 3 months. Please avoid multiple freeze-thaw cycles and store products in aliquots. |
| 运输方式 | In general, Lyophilized powders are shipping with blue ice. |
| 研究背景 | Alterations in GFER gene have been associated with progressive mitochondrial myopathy, congenital cataracts, hearing loss, developmental delay, lactic acidosis and respiratory chain deficiency in 3 siblings born to consanguineous Moroccan parents by homozygosity mapping and candidate gene approach. Using homozygosity mapping, we discovered that a mutation in the GFER gene causes an infantile mitochondrial disorder. |
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