纯度 | >90%SDS-PAGE. |
种属 | Human |
靶点 | FANCF |
Uniprot No | Q9NPI8 |
内毒素 | < 0.01EU/μg |
表达宿主 | E.coli |
表达区间 | 1-374aa |
氨基酸序列 | MESLLQHLDRFSELLAVSSTTYVSTWDPATVRRALQWARYLRHIHRRFGRHGPIRTALERRLHNQWRQEGGFGRGPVPGLANFQALGHCDVLLSLRLLENRALGDAARYHLVQQLFPGPGVRDADEETLQESLARLARRRSAVHMLRFNGYRENPNLQEDSLMKTQAELLLERLQEVGKAEAERPARFLSSLWERLPQNNFLKVIAVALLQPPLSRRPQEELEPGIHKSPGEGSQVLVHWLLGNSEVFAAFCRALPAGLLTLVTSRHPALSPVYLGLLTDWGQRLHYDLQKGIWVGTESQDVPWEELHNRFQSLCQAPPPLKDKVLTALETCKAQDGDFEVPGLSIWTDLLLALRSGAFRKRQVLGLSAGLSSV |
分子量 | 68.7 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FANCF蛋白的3篇典型文献及其摘要内容的简要概述:
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1. **文献名称**:*A human cDNA encoding a protein homologous to the FANCG protein of the Fanconi anemia complementation group*
**作者**:de Winter JP, Waisfisz Q, Rooimans MA, et al.
**摘要**:本研究首次克隆并表达了人FANCF基因的cDNA,证实其属于Fanconi贫血(FA)互补群F的关键基因。通过重组表达FANCF蛋白,研究发现其与FANCA、FANCC等形成核心复合体,参与DNA损伤修复通路的功能调控(发表于*Nature Genetics*, 1998)。
2. **文献名称**:*Functional interaction of monoubiquitinated FANCD2 and BRCA2/FANCD1 in DNA repair*
**作者**:Meetei AR, Yan Z, Wang W.
**摘要**:文章研究了FANCF在Fanconi贫血核心复合体中的作用,利用重组表达的FANCF蛋白揭示了其作为复合体组装的重要支架蛋白,促进FANCL介导的FANCD2单泛素化,进而激活DNA损伤应答(发表于*Molecular Cell*, 2003)。
3. **文献名称**:*Reconstitution of the Fanconi anemia DNA repair pathway in vitro*
**作者**:Knipscheer P, Räschle M, Smogorzewska A, et al.
**摘要**:该研究通过体外重组系统(包含重组人FANCF蛋白及其他FA核心复合体成员)模拟了DNA交联损伤修复的分子机制,证实FANCF对于复合体的稳定性和功能不可或缺(发表于*Cell*, 2009)。
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以上文献从基因克隆、复合体组装到体外功能验证层面,提供了重组人FANCF蛋白的关键研究基础。如需具体DOI或页码,可结合数据库进一步查询。
Recombinant human FANCF protein is a genetically engineered version of the Fanconi anemia complementation group F (FANCF) protein, which plays a critical role in the Fanconi anemia (FA) DNA repair pathway. The FA pathway is essential for maintaining genomic stability by coordinating the repair of DNA interstrand crosslinks (ICLs) and replication stress. FANCF acts as a scaffolding protein, facilitating the assembly of the FA core complex—a multi-subunit ubiquitin ligase required for monoubiquitination of FANCD2 and FANCI. This modification enables the recruitment of downstream repair effectors to damaged sites.
Mutations in the FANCF gene disrupt DNA repair mechanisms, leading to Fanconi anemia, a rare genetic disorder characterized by bone marrow failure, congenital abnormalities, and cancer susceptibility. Recombinant FANCF is produced using expression systems like E. coli or mammalian cells, ensuring high purity and biological activity. It serves as a vital tool for studying FA pathway dynamics, modeling disease mechanisms, and screening therapeutic compounds. Researchers also use it to investigate interactions within the FA core complex and its coordination with other DNA damage response pathways. Its applications extend to developing gene therapies or protein replacement strategies for FA patients. Quality-controlled batches are validated using SDS-PAGE, Western blotting, and functional assays to ensure proper folding and ubiquitin ligase activity.
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