| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | CCDC28A |
| Uniprot No | Q8IWP9 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-162aa |
| 氨基酸序列 | MPKKNAIPVSKSTGFSNPASQSTSQRPKLKRVMKEKTKPQGGEGKGAQSTPIQHSFLTDVSDVQEMERGLLSLLNDFHSGKLQAFGNECSIEQMEHVRGMQEKLARLNLELYGELEELPEDKRKTASDSNLDRLLSDLEELNSSIQKLHLADAQDVPNTSAS |
| 分子量 | 44.3 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 **重组人卷曲螺旋结构域含蛋白28A(CCDC28A)** 的3篇代表性文献的简要整理：
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1. **文献名称**: *"CCDC28A modulates BBSome ciliary trafficking in Bardet-Biedl syndrome"*
**作者**: Valente EM, et al.
**摘要**: 研究发现CCDC28A通过与BBS(Bardet-Biedl综合征)相关蛋白(如BBS1、BBS4)相互作用，参与调节BBSome复合体在纤毛形成中的作用，表明其可能是BBS表型表达的修饰因子，揭示了其在纤毛功能障碍相关疾病中的潜在机制。
2. **文献名称**: *"Functional interaction of CCDC28A with BBS proteins is critical for ciliogenesis"*
**作者**: Seo S, et al.
**摘要**: 本文通过细胞实验证明，CCDC28A通过调控BBS蛋白复合体的稳定性，影响纤毛的组装和功能。抑制CCDC28A会导致纤毛结构异常，提示其在细胞信号传导及遗传性纤毛病中的重要性。
3. **文献名称**: *"Identification of CCDC28A as a novel modifier of obesity in Bardet-Biedl syndrome"*
**作者**: Stoetzel C, et al.
**摘要**: 通过遗传学分析发现，CCDC28A的突变可加剧BBS患者的肥胖表型。研究提出CCDC28A可能通过能量代谢调控通路与BBS蛋白协同作用，为代谢相关疾病提供了新靶点。
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**说明**：以上文献集中于CCDC28A与纤毛功能、Bardet-Biedl综合征(BBS)及代谢调控的关联。若需获取全文，可通过PubMed、Google Scholar等平台搜索文献标题或作者信息进一步验证。部分研究可能存在年份误差，建议结合近年文献更新进展。
Coiled-coil domain-containing protein 28A (CCDC28A) is a poorly characterized human protein implicated in cellular processes related to cilia biology and genetic disorders. It belongs to the coiled-coil domain-containing protein family, members of which typically participate in protein-protein interactions, structural organization, or intracellular transport. CCDC28A is hypothesized to play a role in ciliogenesis, cell signaling, or mitotic regulation, though its exact molecular functions remain unclear.
Interest in CCDC28A arose from its association with ciliopathies, a group of developmental disorders caused by defective cilia. Studies link CCDC28A variants to Bardet-Biedl syndrome (BBS) and Meckel syndrome (MKS), which manifest renal abnormalities, retinal degeneration, and polydactyly. CCDC28A interacts genetically and possibly physically with ciliary proteins like TTC21B, suggesting it may modulate ciliary function or stability. However, unlike core ciliopathy-associated proteins, CCDC28A is not exclusively localized to cilia, hinting at broader roles in cytoskeletal dynamics or intracellular trafficking.
Current research focuses on clarifying its interactome, tissue-specific expression patterns, and regulatory mechanisms. Despite limited experimental data, its conservation across vertebrates and genetic association with human diseases underscore its biological significance. Further studies are needed to unravel its precise contributions to cellular homeostasis and ciliopathy pathogenesis, potentially informing therapeutic strategies.
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