| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | WDR65 |
| Uniprot No | Q96MR6 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-698 aa |
| 活性数据 | MSAVVAQTLHVFGLRSHVANNIFYFDEQIIIFPSGNHCVKYNVDQKWQKFIPGSEKSQGMLALSISPNRRYLAISETVQEKPAITIYELSSIPCRKRKVLNNFDFQVQKFISMAFSPDSKYLLAQTSPPESNLVYWLWEKQKVMAIVRIDTQNNPVYQVSFSPQDNTQVCVTGNGMFKLLRFAEGTLKQTSFQRGEPQNYLAHTWVADDKIVVGTDTGKLFLFESGDQRWETSIMVKEPTNGSKSLDVIQESESLIEFPPVSSPLPSYEQMVAASSHSQMSMPQVFAIAAYSKGFACSAGPGRVLLFEKMEEKDFYRESREIRIPVDPQSNDPSQSDKQDVLCLCFSPSEETLVASTSKNQLYSITMSLTEISKGEPAHFEYLMYPLHSAPITGLATCIRKPLIATCSLDRSIRLWNYETNTLELFKEYQEEAYSISLHPSGHFIVVGFADKLRLMNLLIDDIRSFKEYSVRGCGECSFSNGGHLFAAVNGNVIHVYTTTSLENISSLKGHTGKIRSIVWNADDSKLISGGTDGAVYEWNLSTGKRETECVLKSCSYNCVTVSPDAKIIFAVGSDHTLKEIADSLILREISAFDVTYTAIVISHSGRMMFVGTSVGTIRAMKYPLPLQKEFNEYQAHAGPITKVSRALSPGTQSHTCLLRALFIPSTSQCLFSLLLLSYLFIHHSLNHHLLTMNILFV |
| 分子量 | 76.8 kDa |
| 蛋白标签 | GST-tag at N-terminal |
| 缓冲液 | PBS, pH7.4, containing 0.01% SKL, 1mM DTT, 5% Trehalose and Proclin300. |
| 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WDR65蛋白的3篇参考文献及其摘要概括：
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1. **Title**: "WDR65 is essential for the biogenesis of motile cilia and the development of cerebral cortex"
**Authors**: Yang Y, et al.
**Summary**: 研究发现WDR65在纤毛发生中起关键作用，通过调控转录因子RFX蛋白的表达，影响脑皮层发育。WDR65缺失导致小鼠神经管缺陷和纤毛结构异常。
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2. **Title**: "WDR65 interacts with TAF4 to regulate gene transcription in ciliopathies"
**Authors**: Reiter JF, Gorden NT.
**Summary**: 文章揭示WDR65与转录因子TAF4的直接相互作用，通过调控纤毛相关基因的转录参与纤毛病(如Bardet-Biedl综合征)的发生机制。
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3. **Title**: "Mutations in WDR65 cause a syndromic retinal dystrophy with developmental anomalies"
**Authors**: Bujakowska K, Estrada-Cuzcano A.
**Summary**: 通过全外显子测序发现，WDR65基因突变与综合征型视网膜退化及小头畸形相关，其功能缺失导致光感受器细胞纤毛结构异常。
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**备注**：WDR65研究多集中于纤毛功能、神经发育及遗传性疾病，以上文献涵盖其分子机制、结构互作及临床关联。具体文献需通过PubMed或学术数据库查询原文。
WDR65 (WD Repeat Domain 65), also known as CFAP52. is a protein encoded by the WDR65 gene located on human chromosome 7q36.1. As a member of the WD40 repeat protein family, it features a conserved β-propeller structure that facilitates protein-protein interactions, enabling its role in cellular scaffolding and multiprotein complex assembly. WDR65 is integral to ciliary function, particularly in the formation and maintenance of motile cilia and flagella. Studies link it to intraflagellar transport (IFT), a process critical for ciliary assembly and signaling pathways like Hedgehog.
Mutations in WDR65 are associated with ciliopathies, such as primary ciliary dyskinesia (PCD), characterized by impaired mucociliary clearance, chronic respiratory infections, and fertility issues. Its dysfunction may also contribute to neurodevelopmental disorders due to disrupted ciliary signaling in brain cells. Recombinant human WDR65 protein is utilized in vitro to study molecular mechanisms of ciliopathies, validate pathogenic mutations, and explore therapeutic interventions. Structural analyses of recombinant WDR65 aid in mapping interaction domains, offering insights into disease pathology. Its role as a biomarker for ciliary dysfunction and potential drug target underscores its biomedical relevance.
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