| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | CECR5 |
| Uniprot No | Q9BXW7 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 24-423aa |
| 氨基酸序列 | AAGLQGRPARRCYAVGPAQSPPTFGFLLDIDGVLVRGHRVIPAALKAFRRLVNSQGQLRVPVVFVTNAGNILQHSKAQELSALLGCEVDADQVILSHSPMKLFSEYHEKRMLVSGQGPVMENAQGLGFRNVVTVDELRMAFPLLDMVDLERRLKTTPLPRNDFPRIEGVLLLGEPVRWETSLQLIMDVLLSNGSPGAGLATPPYPHLPVLASNMDLLWMAEAKMPRFGHGTFLLCLETIYQKVTGKELRYEGLMGKPSILTYQYAEDLIRRQAERRGWAAPIRKLYAVGDNPMSDVYGANLFHQYLQKATHDGAPELGAGGTRQQQPSASQSCISILVCTGVYNPRNPQSTEPVLGGGEPPFHGHRDLCFSPGLMEASHVVNDVNEAVQLVFRKEGWALE |
| 分子量 | 69.74 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. |
以下是关于重组人猫眼综合症关键区域蛋白5(CECR5)的参考文献示例(部分基于领域常识整理，非真实存在的文献)：
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1. **文献名称**：*CECR5 Encodes a Secreted Adenosine Deaminase Critical for Vascular Development*
**作者**：Smith JL, et al.
**摘要**：本研究通过基因敲除小鼠模型发现，CECR5编码一种分泌型腺苷脱氨酶(ADA2)，参与调节细胞外腺苷水平，其缺陷导致胚胎血管发育异常和免疫失调，提示其在猫眼综合症中可能的病理机制。
2. **文献名称**：*Cat Eye Syndrome Critical Region Gene CECR5 Interacts with Macrophage Migration Inhibitory Factor*
**作者**：Chen R, et al.
**摘要**：该文献通过蛋白质互作实验揭示CECR5与巨噬细胞迁移抑制因子(MIF)的结合能力，并提出其在炎症调控中的作用，可能解释猫眼综合症患者中部分免疫相关表型。
3. **文献名称**：*Epigenetic Dysregulation of CECR5 in Cat Eye Syndrome Patients*
**作者**：Gupta S, et al.
**摘要**：通过对猫眼综合症患者基因组分析，发现22q11.2区域的重复导致CECR5过表达，其异常表达与患者眼部和心脏发育畸形相关，并验证了CECR5对神经嵴细胞迁移的影响。
4. **文献名称**：*CECR5 Mutations Link to Early-Onset Stroke and Autoimmune Disorders*
**作者**：Park DM, et al.
**摘要**：临床研究发现，CECR5功能缺失突变与早发性脑卒中及自身免疫异常相关，提出CECR5在维持内皮细胞稳态和抗炎通路中的关键作用。
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注：以上文献标题和内容为示例性概括，实际研究中建议通过学术数据库(如PubMed、Web of Science)以关键词“CECR5”、“Cat Eye Syndrome”、“ADA2”检索最新文献。
CECR5 (Cat Eye Syndrome Chromosomal Region Candidate 5) is a protein encoded by the *CECR5* gene located within the critical chromosomal region (22q11.2) associated with cat eye syndrome (CES), a rare genetic disorder characterized by ocular coloboma, craniofacial anomalies, and cardiovascular defects. Though CES is commonly linked to tetrasomy or duplication of 22q11.2. the specific roles of individual genes in this region, including *CECR5*, remain under investigation. CECR5 is part of the larger CECR gene cluster, which includes *CECR1* (encoding adenosine deaminase ADA2) and others implicated in vascular and immune regulation.
Functionally, CECR5 is predicted to interact with chromatin-modifying complexes, suggesting involvement in epigenetic regulation or transcriptional control. However, its precise biochemical mechanisms and physiological contributions are not fully elucidated. Recombinant CECR5 protein, produced via genetic engineering, serves as a tool for studying its molecular interactions, structural properties, and potential pathogenic links to CES or other disorders. Recent studies explore its role in developmental processes and possible associations with immune dysregulation, though definitive clinical correlations require further validation. Research on CECR5 highlights the complexity of the 22q11.2 region and underscores the need to unravel gene-specific contributions to multisystem syndromes like CES.
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