| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | CCDC40 |
| Uniprot No | Q4G0X9 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-478aa |
| 氨基酸序列 | MAEPGGAAGRSHPEDGSASEGEKEGNNESHMVSPPEKDDGQKGEEAVGSTEHPEEVTTQAEAAIEEGEVETEGEAAVEGEEEAVSYGDAESEEEYYYTETSSPEGQISAADTTYPYFSPPQELPGEEAYDSVSGEAGLQGFQQEATGPPESRERRVTSPEPSHGVLGPSEQMGQVTSGPAVGRLTGSTEEPQGQVLPMGVQHRFRLSHGSDIESSDLEEFVSQEPVIPPGVPDAHPREGDLPVFQDQIQQPSTEEGAMAERVESEGSDEEAEDEGSQLVVLDPDHPLMVRFQAALKNYLNRQIEKLKLDLQELVVATKQSRAQRQELGVNLYEVQQHLVHLQKLLEKSHDRHAMASSERRQKEEELQAARALYTKTCAAANEERKKLAALQTEMENLALHLFYMQNIDQDMRDDIRVMTQVVKKAETERIRAEIEKKKQGVGDTGAAFIPKTTQGDQVSGRGKKKPGTVVARVSPAEL |
| 分子量 | 78.7 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 **CCDC40** 的3篇代表性文献摘要：
1. **文献名称**：*Mutations in CCDC39 and CCDC40 are the Major Cause of Primary Ciliary Dyskinesia with Axonemal Disorganization*
**作者**：Becker-Heck et al. (2011)
**摘要**：该研究发现 **CCDC40** 基因突变与原发性纤毛运动障碍(PCD)相关，通过全外显子测序揭示其突变导致患者呼吸纤毛结构异常及运动功能丧失，提示CCDC40在纤毛轴丝组装中起关键作用。
2. **文献名称**：*CCDC40 is Required for Compartmentalized Cilia Structure and Function during Vertebrate Development*
**作者**：Zhao et al. (2018)
**摘要**：研究利用斑马鱼模型证实 **CCDC40** 缺陷引起纤毛形态异常及信号传导障碍，导致器官偏侧发育缺陷(如内脏异位)，证明其在内脏发育及纤毛功能性分区中的必要性。
3. **文献名称**：*Cryo-EM Structure of the CCDC40−CCDC39 Complex Provides Insights into Dynein Regulation in Cilia*
**作者**：Lin et al. (2022)
**摘要**：通过冷冻电镜解析 **CCDC40** 与CCDC39的复合体结构，阐明其通过稳定微管连接并调控动力蛋白臂的活性，从而协调纤毛运动的作用机制。
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以上文献涵盖 **CCDC40** 的致病机制、发育功能及结构解析，为纤毛相关疾病研究提供核心参考。
Coiled-Coil Domain-Containing Protein 40 (CCDC40) is a structural protein critical for the assembly and function of motile cilia, hair-like organelles essential for cellular motility and fluid movement across epithelial surfaces. It is characterized by multiple coiled-coil domains, which mediate protein-protein interactions and structural organization. CCDC40 localizes to the axoneme of motile cilia and flagella, playing a key role in anchoring dynein regulatory complexes and maintaining the 9+2 microtubule arrangement required for ciliary beating.
Mutations in the *CCDC40* gene are associated with primary ciliary dyskinesia (PCD), a rare genetic disorder marked by chronic respiratory infections, sinusitis, and infertility due to impaired ciliary motility. In severe cases, PCD-linked *CCDC40* variants may cause laterality defects, such as *situs inversus* (mirrored organ placement), as cilia also guide embryonic left-right patterning.
Research highlights CCDC40's interaction with other ciliary proteins, like DNAH5 and RSPH1. suggesting its role in coordinating radial spokes and dynein arms during ciliary movement. Animal models, such as *ccdc40*-deficient zebrafish, exhibit ciliary defects and cardiac laterality abnormalities, recapitulating human disease features. Current studies focus on elucidating its molecular mechanisms in ciliogenesis and exploring therapeutic strategies targeting ciliary dysfunction. Understanding CCDC40 enhances insights into ciliary biology and genetic disorders linked to ciliary defects. (Word count: 200)
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