| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | POMT1 |
| Uniprot No | Q9Y6A1 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-747aa |
| 氨基酸序列 | MWGFLKRPVVVTADINLSLVALTGMGLLSRLWRLTYPRAVVFDEVYYGQYISFYMKQIFFLDDSGPPFGHMVLALGGYLGGFDGNFLWNRIGAEYSSNVPVWSLRLLPALAGALSVPMAYQIVLELHFSHCAAMGAALLMLIENALITQSRLMLLESVLIFFNLLAVLSYLKFFNCQKHSPFSLSWWFWLTLTGVACSCAVGIKYMGVFTYVLVLGVAAVHAWHLLGDQTLSNVGADVQCCMRPACMGQMQMSQGVCVFCHLLARAVALLVIPVVLYLLFFYVHLILVFRSGPHDQIMSSAFQASLEGGLARITQGQPLEVAFGSQVTLRNVFGKPVPCWLHSHQDTYPMIYENGRGSSHQQQVTCYPFKDVNNWWIVKDPRRHQLVVSSPPRPVRHGDMVQLVHGMTTRSLNTHDVAAPLSPHSQEVSCYIDYNISMPAQNLWRLEIVNRGSDTDVWKTILSEVRFVHVNTSAVLKLSGAHLPDWGYRQLEIVGEKLSRGYHGSTVWNVEEHRYGASQEQRERERELHSPAQVDVSRNLSFMARFSELQWRMLALRSDDSEHKYSSSPLEWVTLDTNIAYWLHPRTSAQIHLLGNIVIWVSGSLALAIYALLSLWYLLRRRRNVHDLPQDAWLRWVLAGALCAGGWAVNYLPFFLMEKTLFLYHYLPALTFQILLLPVVLQHISDHLCRSQLQRSIFSALVVAWYSSACHVSNTLRPLTYGDKSLSPHELKALRWKDSWDILIRKH |
| 预测分子量 | 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POMT1重组蛋白的3篇参考文献的简要信息：
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1. **文献名称**：*Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome*
**作者**：van Reeuwijk, J., et al.
**摘要**：该研究通过重组表达POMT1蛋白，分析了其在α-肌营养不良蛋白糖基化中的关键作用，发现POMT1基因突变导致Walker-Warburg综合征患者中酶活性丧失，从而破坏肌肉和脑组织发育。
2. **文献名称**：*Post-translational disruption of dystroglycan–ligand interactions in congenital muscular dystrophies*
**作者**：Barresi, R., et al.
**摘要**：研究利用重组POMT1蛋白体外重建糖基化途径，证明POMT1与POMT2形成复合物，协同催化O-甘露糖基转移反应，其功能缺失直接导致肌营养不良蛋白无法与细胞外基质结合。
3. **文献名称**：*Expression and functional analysis of recombinant POMT1 in mammalian cells*
**作者**：Michele, D.E., et al.
**摘要**：通过在HEK293细胞中重组表达POMT1.首次证实该酶在哺乳动物系统中的活性，并发现其与肌营养不良蛋白糖基化缺陷直接相关，为先天性肌营养不良症的分子机制提供了证据。
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这些文献聚焦于POMT1重组蛋白的表达、功能及其在疾病中的机制研究，涉及酶活性验证、糖基化途径解析和疾病模型构建。如需更多细节，可进一步检索PubMed或NCBI数据库。
POMT1 (Protein O-mannosyltransferase 1) is a key enzyme involved in the post-translational modification of proteins, specifically catalyzing the O-mannosylation of target substrates. This glycosylation process is critical for the functional maturation of α-dystroglycan (α-DG), a cell membrane protein essential for maintaining the structural integrity of muscle cells, neurons, and other tissues. Mutations in the POMT1 gene are linked to a group of congenital muscular dystrophies known as dystroglycanopathies, including Walker-Warburg syndrome and muscle-eye-brain disease, characterized by severe brain, eye, and muscle abnormalities.
Recombinant POMT1 protein is produced using biotechnological methods, typically through heterologous expression in bacterial, yeast, or mammalian cell systems. Its production enables detailed study of POMT1's enzymatic activity, structure-function relationships, and interactions with other components of the O-mannosylation pathway, such as POMT2. its obligate partner in forming the functional enzyme complex. Researchers utilize recombinant POMT1 to investigate pathogenic mechanisms underlying dystroglycanopathies, screen potential therapeutic compounds, and develop gene therapy strategies.
Additionally, recombinant POMT1 serves as a tool for diagnosing glycosylation defects via in vitro enzymatic assays. Its therapeutic potential is being explored in preclinical studies, including enzyme replacement therapies or CRISPR-based correction of mutations. Challenges remain in optimizing its stability, delivery to target tissues, and functional integration into the endogenous glycosylation machinery. Ongoing research aims to translate insights from recombinant POMT1 studies into treatments for currently incurable neuromuscular disorders.
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