| WB | 1/1000 | Human,Mouse,Rat |
| IF | 咨询技术 | Human,Mouse,Rat |
| IHC | 咨询技术 | Human,Mouse,Rat |
| ICC | 技术咨询 | Human,Mouse,Rat |
| FCM | 咨询技术 | Human,Mouse,Rat |
| Elisa | 咨询技术 | Human,Mouse,Rat |
| Aliases | Methylmalonic aciduria and homocystinuria type C protein, MMACHC |
| Entrez GeneID | 25974 |
| WB Predicted band size | 31.7kDa |
| Host/Isotype | Rabbit IgG |
| Antibody Type | Primary antibody |
| Storage | Store at 4°C short term. Aliquot and store at -20°C long term. Avoid freeze/thaw cycles. |
| Species Reactivity | Human |
| Immunogen | This MMACHC antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 239-267 amino acids from the C-terminal region of human MMACHC. |
| Formulation | Purified antibody in PBS with 0.05% sodium azide. |
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以下是3篇涉及MMACHC抗体的参考文献摘要(信息基于公开研究数据模拟整理)：
1. **《MMACHC mutations in cblC patients impair protein trafficking and activity》**
- 作者：J. Watkins et al.
- 摘要：研究利用MMACHC特异性抗体通过Western blot和免疫荧光技术，揭示了cblC患者突变导致MMACHC蛋白错误定位至细胞质而非线粒体，影响其参与维生素B12代谢的功能。
2. **《A novel monoclonal antibody for the detection of MMACHC in human tissues》**
- 作者：K. Smith et al.
- 摘要：报道了一种新型MMACHC单克隆抗体的开发与验证，该抗体可特异性识别人类肝、肾和脑组织中的MMACHC蛋白，为临床样本的免疫组化检测提供可靠工具。
3. **《Expression profiling of MMACHC in vitamin B12-deficient models using antibody-based assays》**
- 作者：R. Chen et al.
- 摘要：通过ELISA和免疫印迹技术，发现维生素B12缺乏的小鼠模型中MMACHC蛋白表达显著下调，提示其可能作为相关代谢疾病的潜在生物标志物。
注：以上文献信息为学术场景模拟，实际引用时建议通过PubMed或Google Scholar核对真实论文数据。
The MMACHC antibody is a crucial tool in studying the molecular basis of inherited metabolic disorders, particularly cobalamin (vitamin B12) metabolism defects. The MMACHC gene encodes a protein essential for intracellular processing of dietary vitamin B12. facilitating its conversion into active coenzymes adenosylcobalamin and methylcobalamin. Mutations in MMACHC are linked to combined methylmalonic aciduria and homocystinuria (cblC disease), the most common inborn error of vitamin B12 metabolism.
MMACHC antibodies are primarily used in research to detect and quantify MMACHC protein expression in cells and tissues. They help elucidate the protein’s localization, interaction partners, and dysfunction mechanisms in cblC patients. These antibodies are typically developed in animal hosts (e.g., rabbits, mice) using immunogenic peptide sequences specific to human MMACHC. Validation methods include Western blotting, immunohistochemistry, and immunofluorescence.
Clinically, MMACHC antibodies contribute to confirming diagnoses in suspected cblC cases when genetic testing is inconclusive. Research applications extend to studying genotype-phenotype correlations, evaluating experimental therapies (e.g., chaperone drugs), and exploring secondary effects of MMACHC deficiency, such as mitochondrial dysfunction. Challenges include ensuring specificity due to the protein’s low abundance and structural similarities with other cobalamin-related proteins.
Overall, MMACHC antibodies bridge molecular biology and clinical management, advancing both mechanistic insights and diagnostic precision for cobalamin disorders.
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