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别名 HSS, HPO2, HPO1, HPO, HERV1, growth factor, augmenter of liver regeneration, ERV1, ALR
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.

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 |
|---|---|---|---|
| 5 μg | ¥ 493 | 6-8日内发货 | |
| 10 μg | ¥ 790 | 6-8日内发货 | |
| 20 μg | ¥ 1,330 | 5日内发货 | |
| 50 μg | ¥ 2,580 | 5日内发货 | |
| 100 μg | ¥ 5,170 | 5日内发货 |
| 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. |
| 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. |
| 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. |
| 种属 | Human |
| 表达系统 | HEK293 Cells |
| 标签 | C-His |
| 蛋白编号 | P55789-1 |
| 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. |
| 蛋白性状 | Lyophilized powder |
| 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. |
| 别名 | HSS, HPO2, HPO1, HPO, HERV1, growth factor, augmenter of liver regeneration, ERV1, ALR |
| 内毒素 | < 1.0 EU/μg of the protein as determined by the LAL method. |
| 分子量 | 16.5 kDa (predicted) |
| 运输方式 | In general, lyophilized powders are shipped with blue ice, while solutions are shipped with dry ice. |
| 存储 |
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