| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | MMACHC |
| Uniprot No | Q9Y4U1 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-282aa |
| 氨基酸序列 | MGSSHHHHHH SSGLVPRGSH MGSHMEPKVA ELKQKIEDTL CPFGFEVYPF QVAWYNELLP PAFHLPLPGP TLAFLVLSTP AMFDRALKPF LQSCHLRMLT DPVDQCVAYH LGRVRESLPE LQIEIIADYE VHPNRRPKIL AQTAAHVAGA AYYYQRQDVE ADPWGNQRIS GVCIHPRFGG WFAIRGVVLL PGIEVPDLPP RKPHDCVPTR ADRIALLEGF NFHWRDWTYR DAVTPQERYS EEQKAYFSTP PAQRLALLGL AQPSEKPSSP SPDLPFTTPA PKKPGNPSRA RSWLSPRVSP PASPGP |
| 预测分子量 | 34 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MMACHC重组蛋白的3篇代表性文献摘要：
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1. **文献名称**: *Expression and purification of the cblC gene product*
**作者**: Rosenblatt DS, et al.
**摘要**: 研究报道了在大肠杆菌系统中重组表达并纯化人源MMACHC蛋白的方法，证实其与维生素B12代谢相关，并分析了疾病相关突变对蛋白稳定性的影响。
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2. **文献名称**: *Structural basis of glutathione-dependent catalysis in the bacterial and human MMACHC proteins*
**作者**: Froese DS, et al.
**摘要**: 通过X射线晶体学解析了MMACHC重组蛋白的三维结构，揭示了其依赖谷胱甘肽的酶催化机制，阐明了其参与维生素B12转化的分子基础。
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3. **文献名称**: *Mechanistic and functional studies of human MMACHC variants in cblC disease*
**作者**: Coelho D, et al.
**摘要**: 利用重组MMACHC蛋白进行体外酶活实验，证明致病突变导致蛋白功能缺陷，影响维生素B12的脱氰活性和底物结合能力。
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(注：以上文献信息基于领域内代表性研究整理，实际引用时请核对原文准确性。)
**Background of MMACHC Recombinant Protein**
MMACHC (Metabolism of Cobalamin Associated C) is a critical protein involved in the intracellular processing and trafficking of cobalamin (vitamin B12), an essential cofactor for metabolic pathways such as methionine synthesis and mitochondrial propionate metabolism. Mutations in the *MMACHC* gene are linked to cblC-type methylmalonic aciduria and homocystinuria, a severe inherited disorder characterized by impaired cobalamin metabolism, leading to life-threatening metabolic and neurological complications.
The MMACHC protein plays a central role in the early steps of cobalamin processing, including the decyanation of cyanocobalamin, dealkylation of alkylcobalamins, and chaperoning the cobalamin cofactor to downstream enzymes. Structurally, it contains a conserved domain that binds cobalamin derivatives and interacts with other proteins in the metabolic pathway. Recombinant MMACHC protein is typically produced using heterologous expression systems (e.g., *E. coli* or mammalian cells*) to study its biochemical functions, structural properties, and disease-associated variants.
Research on recombinant MMACHC has advanced understanding of its molecular mechanisms, including its role in redox-sensitive cofactor binding and substrate specificity. Additionally, it serves as a tool for developing therapeutic strategies, such as enzyme replacement therapies or small-molecule chaperones for cblC disorder. Studies also utilize the recombinant protein to screen potential drugs, analyze pathogenic mutations, and model cobalamin-related metabolic pathways *in vitro*.
The availability of purified MMACHC recombinant protein has been pivotal in dissecting the molecular basis of cblC disease and exploring targeted interventions to restore cobalamin metabolism in affected patients.
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