| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | C9orf52 |
| Uniprot No | Q5VTQ0 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-616aa |
| 氨基酸序列 | MALLGSRAELEADEDVFEDALETISISSHSDMATSSLHFASCDTQQAPRQRGASTVSSSSSTKVDLKSGLEECAVALNLFLSNKFTDALELLRPWAKESMYHALGYSTIVVLQAVLTFEQQDIQNGISAMKDALQTCQKYRKKYTVVESFSSLLSRGSLEQLSEEEMHAEICYAECLLQKAALTFVQDENMINFIKGGLKIRTSYQIYKECLSILHEIQKNKLQQEFFYEFEGGVKLGSGAFNLMLSLLPARIIRLLEFIGFSGNRELGLLQLREGASGRSMRSALCCLTILAFHTYISLILGTGEVNVAEAERLLAPFLQQFPNGSLVLFYHARIELLKGNLEEAQEVFQKCVSVQEEWKQFHHLCYWELMWINVFQQNWMQAYYYSDLLCKESKWSKATYVFLKAAILSMLPEEDVVATNENVVTLFRQVDSLKQRIAGKSIPTEKFAVRKARRYSASLPAPVKLILPALEMMYVWNGFSIVSKRKDLSENLLVTVEKAEAALQSQNFNSFSVDDECLVKLLKGCCLKNLQRPLQAELCYNHVVESEKLLKYDHYLVPFTLFELASLYKSQGEIDKAIKFLETARNNYKDYSLESRLHFRIQAALHLWRKPSSD |
| 分子量 | 96.5 KDa |
| 蛋白标签 | GST-tag at N-terminal |
| 缓冲液 | 0 |
| 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. |
以下为重组人C9orf72蛋白相关文献(注：用户问题中的C9orf52可能为C9orf72笔误，暂按C9orf72整理)：
1. **文献名称**: Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS
**作者**: DeJesus-Hernandez M, et al. (2011)
**摘要**: 首次发现C9ORF72基因非编码区GGGGCC重复扩增是额颞叶痴呆(FTD)和肌萎缩侧索硬化症(ALS)的主要遗传因素，提出其可能通过编码毒性二肽重复蛋白(如poly-GA)致病。
2. **文献名称**: The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS
**作者**: Mori K, et al. (2013)
**摘要**: 证实C9ORF72基因的六核苷酸重复序列可通过非常规翻译生成多种二肽重复蛋白(如GA、GR)，这些蛋白在患者脑组织中形成聚集体，直接参与神经退行过程。
3. **文献名称**: C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins
**作者**: Mizielinska S, et al. (2014)
**摘要**: 利用果蝇模型证明，富含精氨酸的二肽重复蛋白(如poly-GR和poly-PR)具有强神经毒性，干扰RNA代谢和核质运输，导致神经元死亡。
4. **文献名称**: Sustained Expression of C9orf72 Hexanucleotide Repeat RNA in Cerebellar Purkinje Cells Induces GABAergic Interneuron Degeneration
**作者**: Shao Q, et al. (2020)
**摘要**: 通过构建重组C9ORF72 RNA过表达小鼠模型，发现重复RNA的长期积累可通过RNA毒性机制导致小脑GABA能中间神经元变性，为基因沉默疗法提供依据。
注：C9ORF72蛋白本身功能尚未完全明确，但上述文献均围绕其基因突变导致的重组异常表达产物(RNA或二肽蛋白)展开机制研究。若需C9ORF72天然蛋白功能文献，可补充另选。
The C9orf52 protein, encoded by the open reading frame 52 on chromosome 9 (9p21.2), remains poorly characterized in current scientific literature. Its biological function and physiological role are largely unknown, though bioinformatic analyses suggest potential involvement in intracellular protein trafficking or signal transduction due to predicted structural motifs. Interest in C9orf52 has been indirectly fueled by its genomic proximity to the C9orf72 gene, where pathogenic GGGGCC repeat expansions are strongly linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). While C9orf52 itself is not directly associated with these neurodegenerative diseases, its expression patterns in neuronal tissues have prompted exploratory studies. Recombinant C9orf52 protein, typically produced in Escherichia coli or mammalian expression systems, enables functional and structural investigations, including protein interaction mapping, enzymatic assays, and antibody development. Challenges persist in elucidating its native interactors and disease relevance, though recombinant tools may help uncover its potential roles in cellular processes or pathological contexts. Current research focuses on clarifying its molecular mechanisms and possible connections to neurological pathways, leveraging recombinant variants tagged for purification and visualization in experimental models.
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