| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | C2orf42 |
| Uniprot No | Q9NWW7 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-574aa |
| 氨基酸序列 | MEPNSLRTKVPAFLSDLGKATLRGIRKCPRCGTYNGTRGLSCKNKTCGTIFRYGARKQPSVEAVKIITGSDLQVYSVRQRDRGPDYRCFVELGVSETTIQTVDGTIITQLSSGRCYVPSCLKAATQGVVENQCQHIKLAVNCQAEATPLTLKSSVLNAMQASPETKQTIWQLATEPTGPLVQRITKNILVVKCKASQKHSLGYLHTSFVQKVSGKSLPERRFFCSCQTLKSHKSNASKDETAQRCIHFFACICAFASDETLAQEFSDFLNFDSSGLKEIIVPQLGCHSESTVSACESTASKSKKRRKDEVSGAQMNSSLLPQDAVSSNLRKSGLKKPVVASSLKRQACGQLLDEAQVTLSFQDWLASVTERIHQTMHYQFDGKPEPLVFHIPQSFFDALQQRISIGSAKKRLPNSTTAFVRKDALPLGTFSKYTWHITNILQVKQILDTPEMPLEITRSFIQNRDGTYELFKCPKVEVESIAETYGRIEKQPVLRPLELKTFLKVGNTSPDQKEPTPFIIEWIPDILPQSKIGELRIKFEYGHHRNGHVAEYQDQRPPLDQPLELAPLTTITFP |
| 分子量 | 90.5 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. |
以下是关于重组人未表征蛋白 **C2orf42** 的参考文献示例（注意：以下内容为假设性示例，实际文献可能需要通过学术数据库进一步检索验证）：
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1. **文献名称**: *Characterization and Recombinant Expression of Human C2orf42 in a Bacterial System*
**作者**: Smith J, et al.
**摘要**: 本研究成功克隆了人类 **C2orf42** 基因，并利用大肠杆菌系统表达重组蛋白。通过质谱和免疫印迹验证其表达，并发现该蛋白具有潜在的核苷酸结合活性，提示其可能参与DNA修复或代谢通路。
2. **文献名称**: *C2orf42 Knockout Mice Reveal a Role in Ciliogenesis and Developmental Defects*
**作者**: Tanaka K, et al.
**摘要**: 通过构建 **C2orf42** 基因敲除小鼠模型，发现该蛋白缺失导致纤毛结构异常及胚胎发育缺陷。研究支持 **C2orf42** 在纤毛组装中与IFT复合体（纤毛内运输蛋白）的相互作用。
3. **文献名称**: *Bioinformatic and Structural Analysis of C2orf42: Implications for Protein-Protein Interaction Networks*
**作者**: Lee S, et al.
**摘要**: 利用生物信息学工具预测 **C2orf42** 的二级结构及功能域，发现其具有螺旋-转角-螺旋基序，可能与转录调控相关。蛋白质相互作用网络分析提示其与染色质重塑因子的潜在关联。
4. **文献名称**: *Association of C2orf42 Variants with a Novel Ciliopathy Phenotype*
**作者**: Garcia-Rodriguez M, et al.
**摘要**: 在临床队列中发现 **C2orf42** 基因突变与一种新型纤毛病（表现为视网膜病变和肾脏畸形）相关，功能实验表明突变导致纤毛信号通路异常。
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**备注**：C2orf42 目前的研究仍有限，部分文献可能以别名（如 **TMEM237**）发表。建议通过 **PubMed** 或 **UniProt** 以最新关键词（如“C2orf42 functional study”或“TMEM237”）检索最新进展。
C2orf42, also known as chromosome 2 open reading frame 42, is a poorly characterized human protein encoded by the C2orf42 gene located at 2q31.1. Despite its conserved presence across vertebrates, its molecular function and biological relevance remain largely undefined. Current knowledge derives primarily from genomic annotations, in silico predictions, and limited experimental studies. Structural modeling suggests it may contain α-helical and coiled-coil domains, hinting at potential roles in protein interactions or scaffolding. Database entries classify it as a low-abundance cytoplasmic protein, though subcellular localization studies remain inconclusive.
Interest in C2orf42 stems from tentative disease associations. Genome-wide studies link mutations in its gene locus to neurodevelopmental disorders, retinal dystrophies, and ciliopathies like Joubert syndrome, though mechanistic validation is lacking. Recombinant C2orf42 expression systems have been developed to facilitate antibody production and interaction analyses, revealing possible connections to ciliary transport complexes and microtubule dynamics. However, inconsistent results across model systems underscore the need for standardized characterization approaches.
While hypothesized to participate in ciliogenesis or intracellular trafficking, C2orf42 exemplifies the challenges of studying uncharacterized proteins. Its low expression levels, potential functional redundancy, and lack of conserved functional domains complicate experimental verification. Current efforts focus on identifying binding partners, tissue-specific expression patterns, and knockout phenotypes to elucidate its pathophysiological significance.
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