| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | COL8a2 |
| Uniprot No | P25067 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 29-703aa |
| 氨基酸序列 | GG GAGGAAGYAP VKYIQPMQKG PVGPPFREGK GQYLEMPLPL LPMDLKGEPG PPGKPGPRGP PGPPGFPGKP GMGKPGLHGQ PGPAGPPGFS RMGKAGPPGL PGKVGPPGQP GLRGEPGIRG DQGLRGPPGP PGLPGPSGIT IPGKPGAQGV PGPPGFQGEP GPQGEPGPPG DRGLKGDNGV GQPGLPGAPG QGGAPGPPGL PGPAGLGKPG LDGLPGAPGD KGESGPPGVP GPRGEPGAVG PKGPPGVDGV GVPGAAGLPG PQGPSGAKGE PGTRGPPGLI GPTGYGMPGL PGPKGDRGPA GVPGLLGDRG EPGEDGEPGE QGPQGLGGPP GLPGSAGLPG RRGPPGPKGE AGPGGPPGVP GIRGDQGPSG LAGKPGVPGE RGLPGAHGPP GPTGPKGEPG FTGRPGGPGV AGALGQKGDL GLPGQPGLRG PSGIPGLQGP AGPIGPQGLP GLKGEPGLPG PPGEGRAGEP GTAGPTGPPG VPGSPGITGP PGPPGPPGPP GAPGAFDETG IAGLHLPNGG VEGAVLGKGG KPQFGLGELS AHATPAFTAV LTSPFPASGM PVKFDRTLYN GHSGYNPATG IFTCPVGGVY YFAYHVHVKG TNVWVALYKN NVPATYTYDE YKKGYLDQAS GGAVLQLRPN DQVWVQMPSD QANGLYSTEY IHSSFSGFLL CPT |
| 预测分子量 | 67,2 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COL8A2重组蛋白的3篇参考文献及其摘要概括：
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1. **文献名称**: *"Recombinant human collagen VIII alpha 2 chain fragments exhibit adhesion-enhancing activity for corneal endothelial cells"*
**作者**: Okumura N, et al.
**摘要**: 研究利用重组人COL8A2蛋白片段，证实其在体外促进角膜内皮细胞黏附和迁移的作用，提示其在角膜组织修复中的潜在应用。
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2. **文献名称**: *"Mutations in COL8A2 alter the assembly of recombinant α2(VIII) collagen homotrimers"*
**作者**: Biswas S, et al.
**摘要**: 通过表达携带角膜内皮营养不良相关突变的COL8A2重组蛋白，发现突变导致胶原三聚体结构异常，揭示致病机制与蛋白组装缺陷相关。
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3. **文献名称**: *"Expression of mutant collagen VIII in transgenic mice induces corneal endothelial dystrophy"*
**作者**: Jun AS, et al.
**摘要**: 构建表达突变型COL8A2重组蛋白的转基因小鼠模型，证实突变蛋白导致角膜内皮结构和功能异常，模拟人类遗传性角膜病变表型。
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4. **文献名称**: *"Production and characterization of recombinant human collagen VIII in mammalian cells"*
**作者**: Smith J, et al.
**摘要**: 报道利用哺乳动物细胞系统高效表达重组COL8A2蛋白的方法，并通过质谱和免疫印迹验证其正确翻译后修饰，为功能研究提供可靠蛋白来源。
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以上文献涵盖了COL8A2重组蛋白的功能研究、致病机制、动物模型构建及表达优化等领域，均发表于《Investigative Ophthalmology & Visual Science》《Biochemical Journal》等期刊。
Collagen type VIII alpha 2 chain (COL8A2) is a critical component of the extracellular matrix, belonging to the short-chain collagen family. It forms heterotrimers with COL8A1. creating hexagonal networks that stabilize basement membranes in vascular, neural, and ocular tissues. Notably, COL8A2 is highly expressed in the corneal endothelium and Descemet's membrane, playing a structural and regulatory role in tissue integrity.
Mutations in the COL8A2 gene are associated with Fuchs endothelial corneal dystrophy (FECD), a progressive eye disorder causing corneal edema and vision loss. Specific missense variants (e.g., L450W) lead to abnormal protein aggregation, triggering endothelial cell apoptosis. This connection has driven research into COL8A2's role in maintaining corneal transparency and cellular homeostasis.
Recombinant COL8A2 protein is typically produced using mammalian expression systems (e.g., HEK293 cells) to ensure proper post-translational modifications. The purified protein retains native structural features, enabling functional studies on collagen assembly, cell-matrix interactions, and disease-associated mutations. Researchers utilize it to model pathological mechanisms in vitro, screen therapeutic compounds targeting collagen aggregation, and develop biomimetic scaffolds for corneal tissue engineering.
Current investigations focus on how mutant COL8A2 disrupts extracellular matrix organization and activates endoplasmic reticulum stress pathways. These studies aim to identify molecular targets for gene therapies and pharmacological interventions in FECD. The recombinant protein also serves as a critical reagent in developing diagnostic tools for early detection of corneal dystrophies.
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