| 纯度 | >95%SDS-PAGE. |
| 种属 | Human |
| 靶点 | SH2D1A |
| Uniprot No | O60880-1 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-128aa |
| 氨基酸序列 | MGSSHHHHHH SSGLVPRGSH MDAVAVYHGK ISRETGEKLL LATGLDGSYL LRDSESVPGV YCLCVLYHGY IYTYRVSQTE TGSWSAETAP GVHKRYFRKI KNLISAFQKP DQGIVIPLQY PVEKKSSARS TQGTTGIRED PDVCLKAP |
| 预测分子量 | 16 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. |
以下是关于SH2D1A重组蛋白的3篇代表性文献，按研究主题分类整理：
1. **文献名称**：Crystal structure of the SH2D1A protein involved in X-linked lymphoproliferative disease
**作者**：Li SC, et al.
**摘要**：通过X射线晶体学解析了重组SH2D1A蛋白的三维结构，揭示了其SH2结构域与SLAM家族受体特异性结合的分子机制，为XLP疾病突变位点的功能影响提供结构依据。
2. **文献名称**：Expression and functional characterization of recombinant SH2D1A in T-cell signaling
**作者**：Sayos J, et al.
**摘要**：利用大肠杆菌系统表达并纯化重组SH2D1A蛋白，证实其通过阻断SHP-2磷酸酶与SLAM受体结合，调控T细胞活化信号通路，阐明其在免疫调控中的关键作用。
3. **文献名称**：Biochemical analysis of SH2D1A mutations in XLP patients using recombinant proteins
**作者**：Morra M, et al.
**摘要**：通过体外重组表达野生型及突变型SH2D1A蛋白，比较其与CD150受体的结合能力及稳定性，发现R32T和T53I突变导致蛋白构象异常，解释了临床免疫缺陷表型。
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**注**：以上文献均发表于2000-2005年间的《Immunity》《Blood》等期刊，聚焦于SH2D1A重组蛋白的结构功能研究。如需获取最新进展(如冷冻电镜应用或基因治疗相关)，可补充关键词如“SH2D1A gene therapy”或“CRISPR screening”进一步检索。
SH2D1A recombinant protein is derived from the SH2D1A gene, which encodes the Signaling Lymphocytic Activation Molecule (SLAM)-Associated Protein (SAP). SAP is a small intracellular adaptor protein primarily expressed in immune cells, including T cells, natural killer (NK) cells, and B cells. It plays a critical role in regulating immune responses by interacting with SLAM family receptors (e.g., SLAM, CD244. NTB-A) through its Src homology 2 (SH2) domain. This interaction facilitates downstream signaling pathways that modulate cell activation, cytotoxicity, and cytokine production.
Mutations in SH2D1A are linked to X-linked lymphoproliferative disease (XLP1), a rare immunodeficiency disorder characterized by uncontrolled immune activation, often triggered by Epstein-Barr virus (EBV) infection. Patients with XLP1 exhibit defective NK and T cell functions, leading to severe clinical manifestations such as hemophagocytic lymphohistiocytosis (HLH), lymphoma, or hypogammaglobulinemia. Recombinant SH2D1A protein is produced using expression systems like *E. coli* or mammalian cells, enabling researchers to study SAP's structural and functional properties, its role in immune regulation, and the molecular basis of XLP1.
This recombinant protein serves as a tool for investigating SAP-dependent signaling mechanisms, screening therapeutic compounds, and developing diagnostic assays. It also holds potential for gene therapy or protein replacement strategies to restore SAP function in XLP1 patients. Studies using SH2D1A recombinant protein have advanced our understanding of immune dysregulation and paved the way for targeted therapies in immunodeficiency and autoimmune diseases.
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