| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | OTC |
| Uniprot No | P00480 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 33-354aa |
| 氨基酸序列 | NKVQLKGRDLLTLKNFTGEEIKYMLWLSADLKFRIKQKGEYLPLLQGKSLGMIFEKRSTRTRLSTETGFALLGGHPCFLTTQDIHLGVNESLTDTARVLSSMADAVLARVYKQSDLDTLAKEASIPIINGLSDLYHPIQILADYLTLQEHYSSLKGLTLSWIGDGNNILHSIMMSAAKFGMHLQAATPKGYEPDASVTKLAEQYAKENGTKLLLTNDPLEAAHGGNVLITDTWISMGQEEEKKKRLQAFQGYQVTMKTAKVAASDWTFLHCLPRKPEEVDDEVFYSPRSLVFPEAENRKWTIMAVMVSLLTDYSPQLQKPKF |
| 预测分子量 | 43.1 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OTC(鸟氨酸氨甲酰基转移酶)重组蛋白研究的参考文献示例(内容为模拟示例，实际文献需通过学术数据库查询)：
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1. **标题**: *Recombinant human ornithine transcarbamylase: Production and functional characterization*
**作者**: Smith J, et al.
**摘要**: 研究报道了通过大肠杆菌表达系统高效表达人源OTC重组蛋白，并验证其酶活性和稳定性，为酶替代疗法提供基础。
2. **标题**: *Gene therapy for OTC deficiency using recombinant adeno-associated virus vectors*
**作者**: Brown L, et al.
**摘要**: 探讨了基于AAV载体的OTC重组蛋白基因递送策略，在动物模型中成功恢复尿素循环功能，展示临床转化潜力。
3. **标题**: *Purification and structural analysis of recombinant OTC for metabolic disease studies*
**作者**: Wang Y, et al.
**摘要**: 通过亲和层析技术纯化OTC重组蛋白，结合X射线晶体学解析其三维结构，为突变导致的酶缺陷机制提供分子依据。
4. **标题**: *Long-term efficacy of PEGylated OTC in a murine model of hyperammonemia*
**作者**: Garcia R, et al.
**摘要**: 评估聚乙二醇修饰的OTC重组蛋白在高氨血症小鼠中的长效治疗效果，证明其显著降低血氨水平并延长生存期。
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**注意**：以上为模拟文献，实际研究需通过PubMed、Web of Science等平台检索关键词(如 "recombinant OTC protein"、"ornithine transcarbamylase gene therapy")。
**Background of OTC Recombinant Proteins**
Ornithine transcarbamylase (OTC) is a mitochondrial enzyme critical to the urea cycle, a metabolic pathway responsible for detoxifying ammonia—a byproduct of protein metabolism. Inherited mutations in the *OTC* gene can lead to OTC deficiency (OTCD), a rare X-linked metabolic disorder characterized by impaired ammonia clearance, resulting in hyperammonemia. Severe cases, often presenting in infancy, cause neurological damage, coma, or death without prompt intervention. Current treatments, including dietary restrictions and ammonia scavengers, are palliative and fail to address the underlying enzyme deficiency. Liver transplantation remains the only curative option but carries significant risks and limitations.
Recombinant protein technology offers a promising therapeutic strategy by producing functional OTC enzymes in vitro. Using expression systems like *E. coli* or mammalian cells, the OTC gene is engineered to produce stable, bioactive enzymes designed to compensate for the genetic defect. Advances in protein engineering, such as codon optimization and post-translational modification mimicry, aim to enhance enzyme stability, activity, and delivery efficiency.
Challenges persist, including ensuring long-term enzyme stability *in vivo*, avoiding immune responses against recombinant proteins, and achieving targeted delivery to hepatocytes. Novel approaches, such as conjugation with cell-penetrating peptides or encapsulation in lipid nanoparticles, are under exploration to improve tissue-specific uptake. Preclinical studies in animal models of OTCD have demonstrated reduced ammonia levels and improved survival, supporting further clinical translation.
While still in early-stage trials, OTC recombinant proteins represent a paradigm shift for urea cycle disorders, potentially offering a lifelong, minimally invasive therapy. Their success could also inform treatments for other enzymatic deficiencies, highlighting the broader impact of recombinant protein technologies in precision medicine.
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