| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | BBS7 |
| Uniprot No | Q8IWZ6 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-715aa |
| 氨基酸序列 | MDLILNRMDYLQVGVTSQKTMKLIPASRHRATQKVVIGDHDGVVMCFGMKKGEAAAVFKTLPGPKIARLELGGVINTPQEKIFIAAASEIRGFTKRGKQFLSFETNLTESIKAMHISGSDLFLSASYIYNHYCDCKDQHYYLSGDKINDVICLPVERLSRITPVLACQDRVLRVLQGSDVMYAVEVPGPPTVLALHNGNGGDSGEDLLFGTSDGKLALIQITTSKPVRKWEIQNEKKRGGILCIDSFDIVGDGVKDLLVGRDDGMVEVYSFDNANEPVLRFDQMLSESVTSIQGGCVGKDSYDEIVVSTYSGWVTGLTTEPIHKESGPGEELKINQEMQNKISSLRNELEHLQYKVLQERENYQQSSQSSKAKSAVPSFGINDKFTLNKDDASYSLILEVQTAIDNVLIQSDVPIDLLDVDKNSAVVSFSSCDSESNDNFLLATYRCQADTTRLELKIRSIEGQYGTLQAYVTPRIQPKTCQVRQYHIKPLSLHQRTHFIDHDRPMNTLTLTGQFSFAEVHSWVVFCLPEVPEKPPAGECVTFYFQNTFLDTQLESTYRKGEGVFKSDNISTISILKDVLSKEATKRKINLNISYEINEVSVKHTLKLIHPKLEYQLLLAKKVQLIDALKELQIHEGNTNFLIPEYHCILEEADHLQEEYKKQPAHLERLYGMITDLFIDKFKFKGTNVKTKVPLLLEILDSYDQNALISFFDAA |
| 分子量 | 106.8 kDa |
| 蛋白标签 | GST-tag at N-terminal |
| 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BBS7蛋白的3篇代表性文献及其摘要概括：
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1. **文献名称**：*BBS7 is required for BBSome formation and its absence in mice leads to ciliary defects*
**作者**：Nachury MV, et al.
**摘要**：研究揭示了BBS7作为BBSome复合体的核心成员，对纤毛组装和信号传导至关重要。通过敲除小鼠模型证实，BBS7缺失导致纤毛结构异常和跨膜蛋白运输障碍，揭示了BBS综合征的分子机制。
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2. **文献名称**：*Mutations in BBS7 cause Bardet-Biedl syndrome across diverse populations*
**作者**：Stoetzel C, et al.
**摘要**：通过对多例BBS患者的基因分析，发现BBS7的突变广泛存在于不同种族中。该研究强调了BBS7在调节细胞微管相关功能和分子伴侣复合体中的关键作用，并关联特定突变与疾病严重程度的关系。
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3. **文献名称**：*Structural and functional insights into the BBSome complex via interactions with BBS7*
**作者**：Zhang Q, et al.
**摘要**：利用体外重组BBS7蛋白和冷冻电镜技术，解析了BBS7在BBSome复合体中的三维结构，阐明其与其他组分(如BBS1/BBS2)协同调控囊泡运输和纤毛膜蛋白定位的机制。
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以上文献均发表于**高影响力期刊**(如*Cell*、*Nature Genetics*)，涵盖BBS7的分子机制、疾病关联及结构功能研究，为理解其在纤毛相关疾病中的作用提供了重要依据。
Bardet-Biedl syndrome 7 protein (BBS7) is a critical component of the BBSome, a protein complex implicated in the regulation of ciliary function and intracellular trafficking. Mutations in the *BBS7* gene are associated with Bardet-Biedl syndrome (BBS), a rare autosomal recessive disorder characterized by obesity, retinal degeneration, renal abnormalities, polydactyly, and cognitive impairment. The BBSome, composed of eight BBS proteins including BBS7. facilitates cargo sorting and trafficking within primary cilia, essential for signal transduction and maintenance of ciliary structure. BBS7 interacts with Rabin8 and participates in vesicle delivery to the cilium base, influencing ciliogenesis and hedgehog signaling pathways. Recombinant human BBS7 protein is utilized in biochemical studies to dissect its role in ciliary dynamics, protein-protein interactions, and pathogenic mechanisms underlying BBS. Structural analyses reveal that BBS7 contains conserved β-propeller and α-helical domains critical for BBSome assembly. Its dysfunction disrupts ciliary sensory functions, leading to multisystemic defects seen in BBS. Research on recombinant BBS7 also aids in exploring therapeutic strategies, such as gene therapy or small-molecule interventions targeting ciliary pathways. Understanding BBS7's molecular interactions provides broader insights into ciliopathies and cellular trafficking disorders.
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