| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | ANKS6 |
| Uniprot No | Q68DC2 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-471aa |
| 氨基酸序列 | MLLNDPDTELVRLLASVCMQVNKDKGRPSHQPPLPHSKVRQPWSIPVLPDDKGGLKSWWNRMSNRFRKLKLMQTLPRGLSSNQPLPFSDEPEPALDSTMRAAPQDKTSRSALPDAAPVTKDNGPGSTRGEKEDTLLTTMLRNGAPLTRLPSDKLKAVIPPFLPPSSFELWSSDRSRTRHNGKADPMKTALPQRASRGHPVGGGGTDTTPVRPVKFPSLPRSPASSANSGNFNHSPHSSGGSSGIGVSRHGGELLNRSGGSIDNVLSQIAAQRKKAAGLLEQKPSHRSSPVGPAPGSSPSELPASPAGGSAPVGKKLETSKRPPSGTSTTSKSTSPTLTPSPSPKGHTAESSVSSSSSHRQSKSSGGSSSGTITDEDELTGILKKLSLEKYQPIFEEQEVDMEAFLTLTDGDLKELGIKTDGSRQQILAAISELNAGKGRERQILQETIHNFHSSFESSASNTRAPGNSPCA |
| 分子量 | 76.4 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. |
1. **"Mutation analysis in ANKS6 identifies pedigrees with nephronophthisis-related ciliopathy"** by Hoff et al. (2013)
摘要：该研究鉴定了ANKS6基因突变与肾单位肾病(NPHP)及相关纤毛病的关联，揭示了ANKS6与INVS、NPHP3等蛋白相互作用，共同维持纤毛结构功能。
2. **"Structural and functional analysis of the ANKS6-SAM domain reveals its role in ciliary targeting"** by Leettola et al. (2014)
摘要：通过X射线晶体学解析了ANKS6的SAM结构域三维结构，表明其通过介导蛋白质相互作用参与纤毛靶向和信号转导，突变可能导致纤毛功能障碍。
3. **"ANKS6 is a central component of a ciliary transition zone complex required for cyst prevention"** by Czarnecki et al. (2016)
摘要：研究发现ANKS6是纤毛过渡带复合体的核心组分，与NEK8等蛋白协同调控细胞周期和囊泡运输，其缺陷会引发多囊肾等病理表型。
4. **"ANKS6 coordinates the NPHP module to regulate ciliary signaling and tissue morphogenesis"** by Shiba et al. (2018)
摘要：提出ANKS6作为NPHP模块的组织者，通过整合Hippo和mTOR信号通路调节纤毛依赖性发育过程，突变导致小鼠模型中出现肾脏和肝脏异常。
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以上文献为示例，实际引用需核对PubMed等数据库确保准确性。
Ankyrin repeat and SAM domain-containing protein 6 (ANKS6) is a ciliary transition zone protein critical for primary cilia structure and function. It contains an N-terminal ankyrin repeat domain and a C-terminal sterile alpha motif (SAM) domain, which mediate protein-protein interactions. ANKS6 interacts with other nephronophthisis (NPHP)-associated proteins, including INVS (inversin) and NEK8. forming a conserved module essential for ciliogenesis and tissue-specific signaling pathways. Mutations in ANKS6 are linked to autosomal recessive polycystic kidney disease (ARPKD) and nephronophthisis (NPHP), a ciliopathy characterized by renal cysts, fibrosis, and progressive renal failure. Studies in model organisms reveal ANKS6's role in ciliary protein trafficking, planar cell polarity, and renal tubule morphogenesis. Its dysfunction disrupts cilia-dependent signaling (e.g., Hedgehog, Wnt), leading to cystic kidney defects, liver abnormalities, and laterality defects. ANKS6 also interacts with the mTOR pathway, suggesting connections between ciliary signaling and cellular metabolism. Despite progress, its precise molecular mechanisms in ciliary assembly and disease pathogenesis remain under investigation, highlighting its importance in understanding ciliopathies and renal pathophysiology.
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