| 别名 | Perforin-1 |
| 基因名称 | Endogenous |
| 蛋白名称 | PRF1 |
| 推荐应用 | |
| 反应物种 | Perforin |
| 存储缓冲液 | WB 1:2000-1:10000;IF 1:200-1:1000;ELISA 1:5000-1:20000;IP 1:50-1:200; |
| Human Gene Link | Cytolysin;FLH2;HPLH2;Lymphocyte pore-forming protein;P1;PERF_HUMAN;perforin 1;pore forming protein;Perforin 1;Perforin-1;PFP;PGFL;PIGF;PIGF-2;PLGF;Pore forming protein;prf1;SHGC-10760 |
| Human Swissprot No. | 5551 |
| Mouse Gene ID | P14222 |
| Mouse Swissprot No. | 18646 |
| Rat Swissprot No. | P35763 |
| 特异性 | Monoclonal |
| 稀释度 | Unmodified |
| 参考分子量 | 62kD |
| 预测分子量 | WB,IF,IP,ELISA |
| 运输及保存条件 | Protein A |
| 宿主 | 62kD |
| 同种型 | Rabbit |
| 背景介绍 | The protein encoded by this gene has structural and functional similarities to complement component 9 (C9). Like C9, this protein creates transmembrane tubules and is capable of lysing non-specifically a variety of target cells. This protein is one of the main cytolytic proteins of cytolytic granules, and it is known to be a key effector molecule for T-cell- and natural killer-cell-mediated cytolysis. Defects in this gene cause familial hemophagocytic lymphohistiocytosis type 2 (HPLH2), a rare and lethal autosomal recessive disorder of early childhood. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008], |
| 细胞定位 | Cytoplasmic, Membranous |
| 功能 | Disease:Defects in PRF1 are the cause of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) [MIM:603553]; also known as HPLH2. Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous, rare autosomal recessive disorder. It is characterized by immune dysregulation with hypercytokinemia and defective natural killer cell function. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, hypertriglyceridemia, hypofibrinogenemia, and neurological abnormalities ranging from irritability and hypotonia to seizures, cranial nerve deficits, and ataxia. Hemophagocytosis is a prominent feature of the disease, and a non-malignant infiltration of macrophages and activated T lymphocytes in lymph nodes, spleen, and other organs is also found.,Function:In the presence of calcium, perforin polymerizes into transmembrane tubules and is capable of lysing non-specifically a variety of target cells.,induction:Repressed by contact with target cells.,online information:Perforin entry,online information:PRF1 mutation db,similarity:Belongs to the complement C6/C7/C8/C9 family.,similarity:Contains 1 C2 domain.,similarity:Contains 1 EGF-like domain.,similarity:Contains 1 MACPF domain.,subcellular location:Cytoplasmic granules of cytolytic T-lymphocytes., |
| 纯化 | PBS, 50% glycerol, 0.05% Proclin 300, 0.05%BSA |
| Clonality | -15°C to -25°C/1 year(Do not lower than -25°C) |
| 修饰类型 | IgG,Kappa |
| 细胞定位 | Cytoplasmic, Membranous |
| 组织表达 | Spleen |
| 研究领域 | >>Apoptosis;>>Natural killer cell mediated cytotoxicity;>>Type I diabetes mellitus;>>Autoimmune thyroid disease;>>Allograft rejection;>>Graft-versus-host disease;>>Viral myocarditis |
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