| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | MCCC2 |
| Uniprot No | Q9HCC0 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 23-563aa |
| 氨基酸序列 | YHGDSVAS LGTQPDLGSA LYQENYKQMK ALVNQLHERV EHIKLGGGEK ARALHISRGK LLPRERIDNL IDPGSPFLEL SQFAGYQLYD NEEVPGGGII TGIGRVSGVE CMIIANDATV KGGAYYPVTV KKQLRAQEIA MQNRLPCIYL VDSGGAYLPR QADVFPDRDH FGRTFYNQAI MSSKNIAQIA VVMGSCTAGG AYVPAMADEN IIVRKQGTIF LAGPPLVKAA TGEEVSAEDL GGADLHCRKS GVSDHWALDD HHALHLTRKV VRNLNYQKKL DVTIEPSEEP LFPADELYGI VGANLKRSFD VREVIARIVD GSRFTEFKAF YGDTLVTGFA RIFGYPVGIV GNNGVLFSES AKKGTHFVQL CCQRNIPLLF LQNITGFMVG REYEAEGIAK DGAKMVAAVA CAQVPKITLI IGGSYGAGNY GMCGRAYSPR FLYIWPNARI SVMGGEQAAN VLATITKDQR AREGKQFSSA DEAALKEPII KKFEEEGNPY YSSARVWDDG IIDPADTRLV LGLSFSAALN APIEKTDFGI FRM |
| 预测分子量 | 61,3 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篇涉及MCCC2重组蛋白研究的参考文献及其摘要概述：
---
1. **文献名称**: *Molecular characterization of MCCC2 and mutations associated with 3-methylcrotonylglycinuria*
**作者**: Gallardo, E., et al.
**摘要**: 本研究通过构建MCCC2重组蛋白，分析了人类MCCC2基因突变对酶活性的影响。实验表明，某些错义突变会导致重组蛋白的稳定性及羧化酶活性显著降低，解释了3-甲基巴豆酰辅酶A羧化酶缺乏症的分子机制。
---
2. **文献名称**: *Functional expression and structural analysis of human MCCC2 using recombinant systems*
**作者**: Huang, X., et al.
**摘要**: 利用大肠杆菌和哺乳动物细胞系统成功表达并纯化MCCC2重组蛋白。通过X射线晶体学解析其三维结构，揭示了MCCC2与辅酶A结合的活性位点，为亮氨酸代谢异常的药物设计提供结构基础。
---
3. **文献名称**: *In vitro reconstitution of MCCC2 deficiency using recombinant enzymes for therapeutic screening*
**作者**: Lietman, C., et al.
**摘要**: 开发了一种基于重组MCCC2蛋白的体外酶活性检测体系，用于评估患者细胞中羧化酶功能缺陷。研究发现补充重组蛋白可部分恢复酶活性，提示潜在的治疗策略。
---
4. **文献名称**: *MCCC2 gene variants and recombinant protein rescue in a zebrafish model*
**作者**: Kumar, A., et al.
**摘要**: 在斑马鱼模型中模拟MCCC2缺陷表型，通过注射人类重组MCCC2蛋白可逆转代谢异常，验证了该蛋白在体内功能恢复中的有效性。
---
以上文献涵盖了MCCC2重组蛋白的结构解析、突变致病机制、体外功能验证及动物模型应用，反映其在基础研究与临床转化中的重要性。
**Background of MCCC2 Recombinant Protein**
Methylcrotonyl-CoA carboxylase 2 (MCCC2) is a critical subunit of the mitochondrial enzyme methylcrotonyl-CoA carboxylase (MCC), which plays an essential role in leucine catabolism. MCC is a heterodimeric enzyme composed of MCCC1 (α subunit) and MCCC2 (β subunit), requiring biotin and ATP as cofactors. It catalyzes the carboxylation of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a key step in the degradation pathway of leucine, enabling the production of energy via the tricarboxylic acid (TCA) cycle.
Mutations in the *MCCC2* gene are associated with autosomal recessive MCCC deficiency, a metabolic disorder characterized by elevated levels of 3-methylcrotonylglycine and 3-hydroxyisovalerylcarnitine. Clinical manifestations vary widely, ranging from asymptomatic cases to severe metabolic crises, including hypoglycemia, metabolic acidosis, muscle weakness, and developmental delays. Early diagnosis and management are crucial to mitigate long-term complications.
Recombinant MCCC2 protein is produced using heterologous expression systems (e.g., *E. coli* or mammalian cell lines) to study its structure, function, and interaction with MCCC1. This engineered protein retains enzymatic activity when combined with MCCC1. enabling in vitro analysis of MCC enzyme kinetics, substrate specificity, and the impact of pathogenic mutations. Researchers utilize MCCC2 recombinant proteins to investigate disease mechanisms, screen potential therapeutic compounds, and develop diagnostic assays for MCCC deficiency. Additionally, epitope-tagged versions facilitate protein purification and antibody production, supporting both basic research and clinical applications.
Overall, MCCC2 recombinant protein serves as a vital tool for advancing our understanding of leucine metabolism, mitochondrial disorders, and precision medicine approaches for inherited metabolic diseases.
×
