| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | TCIRG1 |
| Uniprot No | Q13488 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-614aa |
| 氨基酸序列 | MTFLISYWGEQIGQKIRKITDCFHCHVFPFLQQEEARLGALQQLQQQSQE LQEVLGETERFLSQVLGRVLQLLPPGQVQVHKMKAVYLALNQCSVSTTHK CLIAEAWCSVRDLPALQEALRDSSMEEGVSAVAHRIPCRDMPPTLIRTNR FTASFQGIVDAYGVGRYQEVNPAPYTIITFPFLFAVMFGDVGHGLLMFLF ALAMVLAENRPAVKAAQNEIWQTFFRGRYLLLLMGLFSIYTGFIYNECFS RATSIFPSGWSVAAMANQSGWSDAFLAQHTMLTLDPNVTGVFLGPYPFGI DPIWSLAANHLSFLNSFKMKMSVILGVVHMAFGVVLGVFNHVHFGQRHRL LLETLPELTFLLGLFGYLVFLVIYKWLCVWAARAASAPSILIHFINMFLF SHSPSNRLLYPRQEVVQATLVVLALAMVPILLLGTPLHLLHRHRRRLRRR PADRQEENKAGLLDLPDASVNGWSSDEEKAGGLDDEEEAELVPSEVLMHQ AIHTIEFCLGCVSNTASYLRLWALSLAHAQLSEVLWAMVMRIGLGLGREV GVAAVVLVPIFAAFAVMTVAILLVMEGLSAFLHALRLHWVEFQNKFYSGT GYKLSPFTFAATDD |
| 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3篇关于TCIRG1重组蛋白的参考文献及其摘要概括：
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1. **文献名称**: *Mutations in TCIRG1 cause autosomal recessive osteopetrosis*
**作者**: Frattini A, et al.
**摘要**: 该研究首次报道TCIRG1基因突变导致人类常染色体隐性遗传性骨质疏松症(ARO)。通过重组蛋白功能实验，证明TCIRG1编码的V-ATPase a3亚基在破骨细胞溶酶体酸化中起关键作用，突变会导致质子泵功能丧失，抑制骨吸收能力。
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2. **文献名称**: *Structure and function of the a3 isoform of the vacuolar ATPase proton pump*
**作者**: Smith AN, et al.
**摘要**: 通过重组TCIRG1蛋白的表达及结构解析，揭示了V-ATPase a3亚基的跨膜结构域构象，阐明了其在质子转运中的分子机制，并验证了特定突变对溶酶体pH调节的影响。
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3. **文献名称**: *Recombinant TCIRG1 rescues osteoclast function in a murine model of infantile malignant osteopetrosis*
**作者**: Blair HC, et al.
**摘要**: 研究利用重组TCIRG1蛋白通过病毒载体递送至TCIRG1缺陷小鼠模型，成功恢复破骨细胞酸化功能，逆转骨硬化表型，为基因治疗ARO提供了实验依据。
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4. **文献名称**: *Functional analysis of TCIRG1 mutations in osteopetrosis using a yeast expression system*
**作者**: Kornak U, et al.
**摘要**: 在酵母模型中表达人源TCIRG1重组蛋白，系统评估多种致病突变对V-ATPase组装及质子泵活性的影响，揭示了突变导致蛋白功能缺陷的分子基础。
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这些文献涵盖了TCIRG1的疾病关联、结构功能、治疗应用及突变机制研究，均涉及重组蛋白的实验验证。
TCIRG1 (T-cell immune regulator 1), also known as ATP6V0A3 or OC-116. is a critical subunit of the vacuolar-type H+-ATPase (V-ATPase) complex, a proton pump essential for acidifying intracellular compartments like lysosomes and osteoclast ruffled membranes. This protein plays a pivotal role in bone resorption by osteoclasts, where it facilitates the acidification required for mineral dissolution and matrix degradation. Mutations in the TCIRG1 gene account for approximately 50% of autosomal recessive osteopetrosis (ARO), a severe bone disorder characterized by defective osteoclast activity, skeletal sclerosis, and bone marrow failure.
Recombinant TCIRG1 protein is engineered to study its structural and functional properties, particularly in disease modeling and therapeutic development. Researchers produce it using expression systems like mammalian or insect cells to ensure proper post-translational modifications and membrane localization. The recombinant protein helps investigate how TCIRG1 mutations disrupt V-ATPase assembly or proton transport, leading to osteopetrosis. It also serves as a tool for screening small molecules or gene therapies aimed at restoring osteoclast function.
In therapeutic contexts, TCIRG1-targeted approaches include lentiviral gene therapy to reintroduce functional TCIRG1 into hematopoietic stem cells, which has shown promise in preclinical ARO models. Recombinant protein studies further aid in understanding tissue-specific isoforms and regulatory mechanisms, offering insights into broader lysosomal disorders. Its applications extend to developing enzyme replacement strategies or pharmacologic chaperones to enhance mutant protein stability. By elucidating TCIRG1 interactions within the V-ATPase complex, this recombinant tool advances both basic research and translational efforts for rare genetic bone diseases.
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