| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | CHST6 |
| Uniprot No | Q9GZX3 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-395aa |
| 氨基酸序列 | MWLPRVSSTAVTALLLAQTFLLLFLVSRPGPSSPAGGEARVHVLVLSSWRSGSSFVGQLFNQHPDVFYLMEPAWHVWTTLSQGSAATLHMAVRDLVRSVFLCDMDVFDAYLPWRRNLSDLFQWAVSRALCSPPACSAFPRGAISSEAVCKPLCARQSFTLAREACRSYSHVVLKEVRFFNLQVLYPLLSDPALNLRIVHLVRDPRAVLRSREQTAKALARDNGIVLGTNGTWVEADPGLRVVREVCRSHVRIAEAATLKPPPFLRGRYRLVRFEDLAREPLAEIRALYAFTGLSLTPQLEAWIHNITHGSGPGARREAFKTSSRNALNVSQAWRHALPFAKIRRVQELCAGALQLLGYRPVYSEDEQRNLALDLVLPRGLNGFTWASSTASHPRN |
| 分子量 | 44.0 KDa |
| 蛋白标签 | His tag N-Terminus |
| 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. |
以下是关于重组人碳水化合物硫酸转移酶6(CHST6)的3-4篇参考文献示例及摘要概括：
1. **文献名称**：*Mutations in carbohydrate sulfotransferase 6 (CHST6) cause macular corneal dystrophy*
**作者**：Akama TO, et al.
**摘要**：该研究首次发现CHST6基因突变是导致角膜基质营养不良症(MCDC)的主要病因，阐明了CHST6在角膜中硫酸角质素(keratan sulfate)合成中的关键作用。突变导致酶活性缺失，引发角膜浑浊症状。
2. **文献名称**：*Functional characterization of CHST6 mutations associated with macular corneal dystrophy*
**作者**：Zhang Y, et al.
**摘要**：通过体外表达重组CHST6蛋白，验证了多种MCDC相关突变体(如R50Q、A66D)的酶活性丧失，揭示其因底物结合位点或结构稳定性受损导致硫酸转移功能异常。
3. **文献名称**：*CRISPR/Cas9-mediated CHST6 knockout in corneal fibroblasts as a model for studying MCDC pathogenesis*
**作者**：Kocaba V, et al.
**摘要**：利用CRISPR技术敲除人角膜成纤维细胞的CHST6基因，成功构建MCDC体外模型，证实CHST6缺失导致硫酸角质素表达降低及细胞外基质异常沉积，为机制研究和药物筛选提供了平台。
4. **文献名称**：*Structural insights into the catalytic mechanism of human CHST6 sulfotransferase*
**作者**：Liu J, et al.
**摘要**：通过解析CHST6与底物的复合晶体结构，阐明其催化硫酸基转移的具体机制，包括关键残基(如His220、Arg278)在底物识别及催化中的作用，为开发酶活性调控策略提供结构基础。
注：以上文献信息为示例，实际引用时需通过PubMed、Google Scholar等平台核实标题、作者及摘要内容。
Carbohydrate sulfotransferase 6 (CHST6) is a human enzyme encoded by the *CHST6* gene located on chromosome 16q22. It belongs to the sulfotransferase family, catalyzing the transfer of sulfate groups to carbohydrate moieties, particularly keratan sulfate (KS), a critical component of the corneal matrix. CHST6 specifically sulfates the C-6 position of N-acetylglucosamine (GlcNAc) in KS chains, a modification essential for maintaining corneal transparency and hydration. Mutations in *CHST6* are linked to macular corneal dystrophy type 1 (MCDC1), a rare autosomal recessive disorder characterized by corneal opacities and vision loss due to abnormal KS sulfation.
Recombinant CHST6 (rCHST6) is produced via heterologous expression systems (e.g., bacterial, mammalian, or insect cells) to study its enzymatic activity, structure-function relationships, and disease mechanisms. Its recombinant form enables high-purity protein for biochemical assays, inhibitor screening, and structural studies (e.g., crystallography). Research on rCHST6 also explores therapeutic strategies for MCDC1. such as enzyme replacement or gene therapy. Despite progress, challenges remain in understanding its regulatory interactions and tissue-specific roles beyond the cornea. Current studies focus on optimizing expression systems for functional stability and exploring its potential in tissue engineering or biomarker development for corneal diseases.
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