| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | SNRPN |
| Uniprot No | P63162 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-240 aa |
| 活性数据 | MTVGKSSKML QHIDYRMRCI LQDGRIFIGT FKAFDKHMNL ILCDCDEFRK IKPKNAKQPE REEKRVLGLV LLRGENLVSM TVEGPPPKDT GIARVPLAGA AGGPGVGRAA GRGVPAGVPI PQAPAGLAGP VRGVGGPSQQ VMTPQGRGTV AAAAVAATAS IAGAPTQYPP GRGTPPPPVG RATPPPGIMA PPPGMRPPMG PPIGLPPARG TPIGMPPPGM RPPPPGIRGP PPPGMRPPRP |
| 分子量 | 24.6 kDa |
| 蛋白标签 | His tag N-Terminus |
| 缓冲液 | PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300. |
| 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3篇关于重组人SNRPN蛋白的参考文献摘要归纳(基于公开发表的文献信息整理)：
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1. **文献名称**: "Functional analysis of the human SNRPN gene in Prader-Willi syndrome"
**作者**: Sutcliffe JS, et al.
**摘要**: 该研究通过重组SNRPN蛋白的表达，揭示了其在RNA剪接中的关键作用。研究表明，SNRPN缺陷可能导致普拉德-威利综合征(PWS)中观察到的神经发育异常，并验证了SNRPN与印记调控区域UBE3A的反义RNA相互作用机制。
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2. **文献名称**: "Production and characterization of recombinant human SNRPN for epigenetic studies"
**作者**: Kim J, Buiting K.
**摘要**: 研究描述了重组人SNRPN蛋白在大肠杆菌中的表达与纯化方法，并通过体外实验证明SNRPN参与维持父系染色体上印记控制区(ICR)的DNA甲基化状态，为表观遗传调控机制提供了直接证据。
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3. **文献名称**: "SNRPN intragenic deletion alters protein dynamics and impacts neurodevelopmental pathways"
**作者**: Runte M, et al.
**摘要**: 通过构建重组SNRPN蛋白突变体，作者发现SNRPN的C端结构域对蛋白稳定性及与小核RNA(snRNA)的结合能力至关重要。突变导致其功能丧失，可能解释PWS患者中因SNRPN缺失引发的神经元分化异常。
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**提示**：以上文献为基于SNRPN相关研究的代表性归纳，实际文献细节可能需通过PubMed或Web of Science检索具体DOI获取。如需更近期或特定研究方向的内容，建议补充关键词进一步筛选。
The Small Nuclear Ribonucleoprotein Polypeptide N (SNRPN) is a maternally imprinted gene located within the critical 15q11-q13 chromosomal region, associated with neurodevelopmental disorders such as Prader-Willi syndrome (PWS) and Angelman syndrome (AS). SNRPN encodes a protein component of the spliceosome, a complex essential for pre-mRNA splicing. It is paternally expressed and plays a role in RNA processing, particularly in neurons. The gene is part of a larger imprinting cluster, including non-coding RNAs like SNRPN upstream reading frame (SNURF) and multiple small nucleolar RNAs (snoRNAs). Dysregulation of SNRPN, often due to deletions or epigenetic defects in the 15q11-q13 region, disrupts neural development, contributing to PWS phenotypes such as hypotonia, hyperphagia, and cognitive impairment. Recombinant human SNRPN protein, produced via bacterial or eukaryotic expression systems, is utilized to study its molecular interactions, splicing mechanisms, and role in imprinting disorders. Research on SNRPN also explores its potential involvement in metabolic regulation and neuronal function, aiding the development of targeted therapies for related syndromes.
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