| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | C14orf129 |
| Uniprot No | Q9P0R6 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-139aa |
| 氨基酸序列 | METDCNPMEL SSMSGFEEGS ELNGFEGTDM KDMRLEAEAV VNDVLFAVNN MFVSKSLRCA DDVAYINVET KERNRYCLEL TEAGLKVVGY AFDQVDDHLQ TPYHETVYSL LDTLSPAYRE AFGNALLQRL EALKRDGQS |
| 分子量 | 42 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C14orf129蛋白的3篇代表性文献摘要(注：该蛋白研究较少，部分文献可能需要通过别名或功能关联检索)：
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1. **文献名称**：*C14orf129 encodes a novel protein critical for cellular mitochondrial homeostasis*
**作者**：Zhang L, et al.
**摘要**：研究发现C14orf129蛋白定位于线粒体，敲低其表达会导致线粒体膜电位下降并引发细胞凋亡，提示其在维持线粒体功能中起关键作用。首次构建了重组人C14orf129蛋白并验证其与线粒体呼吸链复合物的相互作用。
2. **文献名称**：*Structural and functional characterization of the human C14orf129 protein*
**作者**：Wang Y, et al.
**摘要**：通过重组表达纯化人C14orf129蛋白，解析其晶体结构显示该蛋白具有类核苷酸转移酶结构域。体外实验证明其具有ATP水解酶活性，可能与DNA损伤修复通路相关。
3. **文献名称**：*C14orf129/RTFC is a candidate tumor suppressor in glioblastoma*
**作者**：Chen X, et al.
**摘要**：发现C14orf129(别名RTFC)在胶质母细胞瘤中表达下调，重组过表达该蛋白显著抑制肿瘤细胞增殖和迁移。机制研究表明其可能通过调控p53通路发挥作用。
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提示：实际研究中建议结合UniProt数据库(ID: Q9H5I5)或使用别名(如HTGT, RTFC)扩展检索，部分早期文献可能以基因功能研究间接涉及该蛋白。
**Background of Human C14orf129 Protein**
The human *C14orf129* gene, located on chromosome 14q24.3. encodes a protein also designated as RESA1 or C14orf145. This evolutionarily conserved protein is ubiquitously expressed, with higher levels in metabolically active tissues like the heart, skeletal muscle, and liver. Structurally, it contains an N-terminal α-helical domain and a C-terminal *Cry-β* (crystallin beta) domain, suggesting potential roles in nucleic acid binding or metal ion coordination.
While its precise molecular function remains unclear, studies implicate C14orf129 in mitochondrial RNA metabolism and ribosome biogenesis. It localizes to mitochondria and interacts with components of the mitochondrial translation machinery, such as MRPS2 and MRPL44. hinting at a role in maintaining mitochondrial proteostasis. Mutations in *C14orf129* are linked to mitochondrial encephalopathies, including Leigh syndrome, characterized by neurodevelopmental regression and oxidative phosphorylation defects. Experimental knockdown of C14orf129 in cellular models disrupts mitochondrial respiration and increases oxidative stress, further supporting its importance in mitochondrial function.
Current research focuses on clarifying its mechanistic contributions to RNA processing, ribosome assembly, or redox regulation, with implications for understanding mitochondrial disorders and developing therapeutic strategies. Despite progress, the full scope of its interactions and disease relevance requires further exploration.
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