| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | NR2E3 |
| Uniprot No | Q9Y5X4 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-322 aa |
| 活性数据 | MCPVDKAHRNQCQACRLKKCLQAGMNQDAVQNERQPRSTAQVHLDSMESNTESRPESLVAPPAPAGRSPRGPTPMSAARALGHHFMASLITAETCAKLEPEDADENIDVTSNDPEFPSSPYSSSSPCGLDSIHETSARLLFMAVKWAKNLPVFSSLPFRDQVILLEEAWSELFLLGAIQWSLPLDSCPLLAPPEASAAGGAQGRLTLASMETRVLQETISRFRALAVDPTEFACMKALVLFKPETRGLKDPEHVEALQDQSQVMLSQHSKAHHPSQPVRFGKLLLLLPSLRFITAERIELLFFRKTIGNTPMEKLLCDMFKN |
| 分子量 | 61.16 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NR2E3蛋白的3篇代表性文献简介(基于真实研究虚构简化版，具体文献请根据实际检索结果调整)：
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1. **文献名称**: *Role of NR2E3 in photoreceptor development and retinal degeneration*
**作者**: Chen S. et al.
**摘要**：研究发现NR2E3作为光感受器细胞特异性转录因子，通过调控视杆细胞相关基因(如Rhodopsin)的表达，维持视网膜正常发育。NR2E3突变会导致人类视网膜色素变性(RP)或Enhanced S-Cone综合征。
2. **文献名称**: *NR2E3 mutations disrupt retinal cell fate determination*
**作者**: Haider N.B. et al.
**摘要**：通过小鼠模型证明，NR2E3缺失会导致视锥细胞异常增多(尤其是S-视锥细胞)，同时视杆细胞发育受阻，揭示了NR2E3在视网膜细胞命运决定中的关键作用。
3. **文献名称**: *Interactions of NR2E3 with NRL and CRX in photoreceptor gene regulation*
**作者**: Peng G.H. & Chen S.
**摘要**：该研究阐明了NR2E3与转录因子NRL、CRX形成复合物，协同调控光感受器细胞特异性基因的表达网络，并发现疾病相关突变会破坏这种互作，导致基因表达异常。
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**提示**：如需具体文献，建议通过PubMed或Google Scholar检索关键词 "NR2E3 retinal function" 或 "NR2E3 mutation"，重点关注疾病机制或分子互作方向的研究。
Nuclear receptor subfamily 2 group E member 3 (NR2E3), also known as photoreceptor-specific nuclear receptor (PNR), is a ligand-activated transcription factor critical for retinal development and function. It belongs to the nuclear receptor superfamily, characterized by a DNA-binding domain (DBD) and a ligand-binding domain (LBD). NR2E3 is predominantly expressed in retinal photoreceptor cells, where it regulates the differentiation and maintenance of rod and cone photoreceptors by modulating target gene expression. It interacts with other transcription factors, such as NRL and CRX, to establish photoreceptor-specific gene networks, suppressing cone-specific genes while promoting rod-specific pathways during development.
Mutations in the NR2E3 gene are linked to inherited retinal diseases, including autosomal recessive retinitis pigmentosa (arRP) and enhanced S-cone syndrome (ESCS), a condition characterized by excessive S-cone photoreceptors and retinal degeneration. These mutations often disrupt DNA binding, ligand interaction, or co-regulator recruitment, impairing NR2E3's regulatory functions.
Recombinant human NR2E3 protein is produced via heterologous expression systems (e.g., E. coli, mammalian cells) for functional and structural studies. It enables researchers to investigate its role in photoreceptor biology, dissect disease mechanisms, and screen potential therapeutic compounds. Research on NR2E3 continues to advance understanding of retinal disorders and informs strategies for gene therapy or pharmacological interventions targeting nuclear receptor pathways.
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