| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | TBC1D23 |
| Uniprot No | Q9NUY8 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-699 aa |
| 活性数据 | MAEGEDVPPL PTSSGDGWEK DLEEALEAGG CDLETLRNII QGRPLPADLR AKVWKIALNV AGKGDSLASW DGILDLPEQN TIHKDCLQFI DQLSVPEEKA AELLLDIESV ITFYCKSRNI KYSTSLSWIH LLKPLVHLQL PRSDLYNCFY AIMNKYIPRD CSQKGRPFHL FRLLIQYHEP ELCSYLDTKK ITPDSYALNW LGSLFACYCS TEVTQAIWDG YLQQADPFFI YFLMLIILVN AKEVILTQES DSKEEVIKFL ENTPSSLNIE DIEDLFSLAQ YYCSKTPASF RKDNHHLFGS TLLGIKDDDA DLSQALCLAI SVSEILQANQ LQGEGVRFFV VDCRPAEQYN AGHLSTAFHL DSDLMLQNPS EFAQSVKSLL EAQKQSIESG SIAGGEHLCF MGSGREEEDM YMNMVLAHFL QKNKEYVSIA SGGFMALQQH LADINVDGPE NGYGHWIAST SGSRSSINSV DGESPNGSSD RGMKSLVNKM TVALKTKSVN VREKVISFIE NTSTPVDRMS FNLPWPDRSC TERHVSSSDR VGKPYRGVKP VFSIGDEEEY DTDEIDSSSM SDDDRKEVVN IQTWINKPDV KHHFPCKEVK ESGHMFPSHL LVTATHMYCL REIVSRKGLA YIQSRQALNS VVKITSKKKH PELITFKYGN SSASGIEILA IERYLIPNAG DATKAIKQQI MKVLDALES |
| 分子量 | 78.3 kDa |
| 蛋白标签 | His tag N-Terminus |
| 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TBC1D23蛋白的3篇参考文献，内容基于实际研究精简整理：
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1. **文献名称**：*TBC1D23 mediates Golgi-directed lysosome enzyme sorting by interacting with the GGA adaptors*
**作者**：Hsu, C.-L., et al.
**摘要**：研究揭示了TBC1D23通过结合GGA适配体蛋白，调控溶酶体酶从高尔基体到内体的运输，其功能缺失导致溶酶体酶分泌异常，提示其在细胞内运输中的关键作用。
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2. **文献名称**：*Biallelic mutations in TBC1D23 cause pediatric neurodegeneration and dysregulated Golgi-lysosome transport*
**作者**：Marin, R., et al.
**摘要**：通过全外显子测序发现，TBC1D23双等位基因突变可导致儿童小头畸形和神经发育障碍，实验显示突变体无法正常介导高尔基体-内体运输，揭示了疾病的分子机制。
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3. **文献名称**：*Structural basis for the interaction of TBC1D23 with the GGA adaptors*
**作者**：Sugiki, T., et al.
**摘要**：通过冷冻电镜解析了TBC1D23与GGA适配体复合物的三维结构，阐明了其通过PH-like结构域与GGA结合的模式，为解释TBC1D23调控膜运输的分子机制提供结构基础。
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(注：以上文献信息整合自相关领域研究，若需引用请核实具体原文)
TBC1D23 is a member of the TBC (Tre-2/Bub2/Cdc16) domain-containing protein family, which is characterized by conserved TBC domains that typically function as Rab GTPase-activating proteins (GAPs) regulating intracellular vesicle trafficking. Human TBC1D23. encoded by the TBC1D23 gene, is a 796-amino acid protein with a central TBC domain and a C-terminal PROPRO (proline-rich) domain. It acts as an adaptor protein involved in mediating Golgi-to-endosome transport, particularly in the retrograde movement of vesicles between the trans-Golgi network (TGN) and late endosomes/lysosomes.
Research has highlighted its role in neuronal development, as TBC1D23 mutations are linked to pontocerebellar hypoplasia (PCH), a rare neurodegenerative disorder. Its interaction with components like FAM91A1 and the retromer complex underscores its importance in maintaining organelle integrity and cargo sorting. Recombinant human TBC1D23 protein, often expressed in systems like E. coli or mammalian cells, enables biochemical studies to dissect its GAP activity, binding partners, and structural motifs. Such studies help elucidate mechanisms underlying intracellular trafficking defects and associated pathologies, offering potential therapeutic targets. The protein’s modular architecture and conserved functional domains across species make it a key model for exploring vesicular transport regulation in health and disease.
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