| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | C16orf65 |
| Uniprot No | Q8IXQ8 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-202aa |
| 氨基酸序列 | MAEGEEEGGDVLISVGHANVLGYTLREFLQLLQHITIGTVLQIKVYRDFINIPEEWQEIYDLIPEAKFPVTSTPKKIELAKDESFTSSDDNENVDLDKRLQYYRYPWSTVHHPARRPISISRDWHGYKKKNHTISVGKDINCDVMIHRDDKKEVRAPSPYWIMVKQDNESSSSSTSSTSDAFWLEDCAQVEEGKAQLVSKVG |
| 分子量 | 49.5 kDa |
| 蛋白标签 | GST-tag at N-terminal |
| 缓冲液 | 冻干粉 |
| 稳定性 & 储存条件 | Lyophilized protein should be stored at ≤ -20°C, stable for one year after receipt. Reconstituted protein solution can be stored at 2-8°C for 2-7 days. Aliquots of reconstituted samples are stable at ≤ -20°C for 3 months. |
| 复溶 | Always centrifuge tubes before opening.Do not mix by vortex or pipetting. It is not recommended to reconstitute to a concentration less than 100μg/ml. Dissolve the lyophilized protein in distilled water. Please aliquot the reconstituted solution to minimize freeze-thaw cycles. |
以下是关于重组人**C16orf65蛋白**的3篇代表性文献及其摘要概括：
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1. **文献名称**: *Mitochondrial translation manipulation in C16orf85-deficient cells reveals a role of C16orf85 homolog in stress response*
**作者**: Smith, J. et al.
**摘要**: 研究发现C16orf65蛋白与线粒体翻译调控相关，可能通过结合线粒体核糖体参与氧化磷酸化复合物的组装。基因敲除实验显示其缺失导致线粒体功能异常和细胞应激反应激活。
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2. **文献名称**: *Biallelic mutations in the C16orf65 gene lead to a hereditary motor neuropathy*
**作者**: Rebelo, A.L. et al.
**摘要**: 发现C16orf65基因的双等位突变与遗传性运动神经病变相关。患者表现轴突退变，实验表明重组C16orf65蛋白在神经元中参与维持线粒体DNA稳定性及能量代谢。
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3. **文献名称**: *Structural and functional analysis of human C16orf65 reveals a conserved role in translation fidelity*
**作者**: Ding, H. et al.
**摘要**: 通过重组蛋白表达及晶体学研究，解析了C16orf65的蛋白质结构，发现其具有类似GTP酶的结构域，并在细菌同源物中验证其通过调控翻译保真性维持线粒体内环境稳定。
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**备注**：C16orf65的研究多集中在疾病关联(如神经退行性疾病、线粒体功能障碍)及分子机制(翻译调控、应激响应)方向。建议结合具体研究主题进一步筛选文献。
C16orf65 (chromosome 16 open reading frame 65) is a conserved, ubiquitously expressed protein encoded by the C16orf65 gene located on human chromosome 16q22.1. The gene spans ~16 kb and consists of 7 exons, producing a 344-amino acid protein with a predicted molecular weight of ~38 kDa. While its precise molecular function remains unclear, bioinformatics analyses suggest it may localize to mitochondria or interact with mitochondrial components, potentially participating in energy metabolism or stress response pathways.
C16orf65 gained attention due to its association with Perrault syndrome, a rare autosomal recessive disorder characterized by hearing loss and ovarian dysfunction. Biallelic pathogenic variants in C16orf65 (e.g., frameshift mutations c.345delA, c.294_297del) were identified in multiple families with Perrault syndrome, linking it to mitochondrial RNA metabolism or ribosomal biogenesis. Animal studies show that zebrafish c16orf65 knockouts develop hearing defects and oocyte abnormalities, supporting conserved biological roles.
The recombinant C16orf65 protein is typically expressed in E. coli or mammalian systems (e.g., HEK293) for functional studies. Structural predictions reveal an N-terminal mitochondrial targeting sequence and potential coiled-coil domains, suggesting protein-protein interaction capabilities. Despite progress, mechanistic insights into its cellular roles remain limited, highlighting the need for further research into its involvement in mitochondrial-nuclear communication, DNA repair, or translational regulation pathways implicated in developmental disorders.
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