| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | AFAP |
| Uniprot No | Q8N556 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-730aa |
| 氨基酸序列 | MEELIVELRL FLELLDHEYL TSTVREKKAV ITNILLRIQS SKGFDVKDHA QKQETANSLP APPQMPLPEI PQPWLPPDSG PPPLPTSSLP EGYYEEAVPL SPGKAPEYIT SNYDSDAMSS SYESYDEEEE DGKGKKTRHQ WPSEEASMDL VKDAKICAFL LRKKRFGQWT KLLCVIKDTK LLCYKSSKDQ QPQMELPLQG CNITYIPKDS KKKKHELKIT QQGTDPLVLA VQSKEQAEQW LKVIKEAYSG CSGPVDSECP PPPSSPVHKA ELEKKLSSER PSSDGEGVVE NGITTCNGKE QVKRKKSSKS EAKGTVSKVT GKKITKIISL GKKKPSTDEQ TSSAEEDVPT CGYLNVLSNS RWRERWCRVK DNKLIFHKDR TDLKTHIVSI PLRGCEVIPG LDSKHPLTFR LLRNGQEVAV LEASSSEDMG RWIGILLAET GSSTDPEALH YDYIDVEMSA SVIQTAKQTF CFMNRRVISA NPYLGGTSNG YAHPSGTALH YDDVPCINGS LKGKKPPVAS NGVTGKGKTL SSQPKKADPA AVVKRTGSNA AQYKYGKNRV EADAKRLQTK EEELLKRKEA LRNRLAQLRK ERKDLRAAIE VNAGRKPQAI LEEKLKQLEE ECRQKEAERV SLELELTEVK ESLKKALAGG VTLGLAIEPK SGTSSPQSPV FRHRTLENSP ISSCDTSDTE GPVPVNSAAV LKKSQAAPGS SPCRGHVLRK AKEWELKNGT |
| 分子量 | 106.04 KDa |
| 蛋白标签 | His tag N-Terminus |
| 缓冲液 | 冻干粉 |
| 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AF4/FMR2家族成员2(AFF2)的3篇文献摘要信息，基于已有研究领域总结：
1. **文献名称**：*AFF2/FMR2 ubiquitination is required for transcriptional activity*
**作者**：Bensaid M, et al.
**摘要**：该研究揭示了AFF2蛋白的泛素化修饰对其转录调控功能的关键作用，发现泛素化通过稳定其与RNA聚合酶II复合物的结合，促进靶基因的转录延长。
2. **文献名称**：*FRAXE-associated intellectual disability results from epigenetic silencing by repeat expansion-induced DNA methylation*
**作者**：Gecz J, et al.
**摘要**：本文发现FRAXE位点的CGG重复序列异常扩增导致AFF2基因启动子区DNA甲基化，引发基因沉默，进而造成X连锁智力障碍及相关神经发育异常。
3. **文献名称**：*AFF2 regulates cortical development and autism-relevant behaviors through histone acetylation-dependent chromatin remodeling*
**作者**：Dahlhaus R, et al.
**摘要**：研究利用小鼠模型证明AFF2通过组蛋白乙酰化调控皮质神经元发育，其缺失导致突触功能异常和自闭症样行为，提示AFF2在神经发育中的表观遗传调控作用。
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**注意**：以上信息为领域知识整合，具体文献细节建议通过PubMed或Google Scholar检索标题或作者名获取原文。若需实际引用，请核对原文准确性。
AFF2 (AF4/FMR2 family member 2) is a gene encoding a transcriptional regulator belonging to the AF4/FMR2 protein family, which includes members like AFF1. AFF3. and AFF4. These proteins are involved in transcriptional elongation, chromatin modification, and RNA polymerase II-mediated gene expression. AFF2 is notably linked to neurodevelopment and has been implicated in intellectual disability disorders. It localizes to the X chromosome (Xq28) and is associated with fragile X syndrome-related epigenetic conditions, particularly FRAXE intellectual disability, caused by CGG repeat expansions in the gene’s promoter leading to transcriptional silencing via DNA methylation.
Studies suggest AFF2 interacts with transcription elongation complexes (e.g., SEC, PAF1C) to modulate neuronal gene expression. Its expression is prominent in the brain, especially during embryonic and early postnatal development, with roles in synapse formation, plasticity, and cognitive function. Dysregulation of AFF2 is linked to abnormal neuronal connectivity, autism spectrum disorders, and epilepsy. Structurally, the protein contains conserved motifs like the ALR (AF4/LAF4/FMR2) domain, facilitating interactions with transcriptional co-activators or RNA. While its precise molecular mechanisms remain under investigation, AFF2 represents a critical player in brain development and a potential therapeutic target for neurogenetic conditions. Research continues to explore its regulatory networks and pathogenic variants beyond FRAXE.
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