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 | Testing in progress |
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 | HPO, ERV1, HERV1, ALR, HSS, HPO2, growth factor, augmenter of liver regeneration, HPO1 |
蛋白构建 | The Human GFER (NP_005253.3) (Met1-Asp125) was expressed with a polyhistidine tag at the C-terminus. |
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℃. For reconstituted proteinsolutions, 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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ALR Protein, Human, Recombinant (His) HPO ERV1 HERV1 ALR HSS ERV 1 HERV 1 HPO 1 HERV-1 HPO-2 ERV-1 HPO2 growth factor, augmenter of liver regeneration HPO-1 HPO 2 HPO1 recombinant recombinant-proteins proteins protein