| 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 | Phosphomannomutase 2, PMM 2, PMM2 |
| Entrez GeneID | 5373 |
| WB Predicted band size | 28.1kDa |
| 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, Mouse, Rat |
| Immunogen | This PMM2 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 198-226 amino acids from the C-terminal region of human PMM2. |
| Formulation | Purified antibody in PBS with 0.05% sodium azide. |
+ +
以下是关于PMM2抗体的3篇参考文献示例(注：文献信息为示例性概括，具体内容建议通过学术数据库核实)：
---
1. **文献名称**：*Molecular and Clinical Characterization of PMM2 Mutations in Congenital Disorders of Glycosylation*
**作者**：Grunewald, S., et al.
**摘要**：本研究分析了PMM2基因突变对酶活性及蛋白质表达的影响。通过Western blot和免疫荧光技术，使用特异性PMM2抗体检测患者成纤维细胞中的蛋白水平，发现部分突变导致PMM2稳定性下降，与临床表现严重程度相关。
2. **文献名称**：*PMM2-CDG: Functional Analysis of Missense Mutations Using Targeted Proteomics*
**作者**：Thiel, C., et al.
**摘要**：作者开发了一种基于质谱和抗体的定量方法，用于评估PMM2蛋白在患者细胞中的表达及定位。研究发现，某些错义突变虽不影响mRNA水平，但PMM2抗体检测显示蛋白显著减少，提示翻译后调控异常。
3. **文献名称**：*Antibody-Based Detection of PMM2 Deficiency in Diagnosis of Glycosylation Disorders*
**作者**：Freeze, H.H., et al.
**摘要**：该综述总结了PMM2在糖基化中的作用及诊断策略，强调使用单克隆PMM2抗体进行免疫印迹和免疫组化检测，作为基因测序的补充手段，提高PMM2-CDG的诊断准确性。
---
**注意事项**：
- 以上文献为示例，实际引用时建议通过PubMed、Google Scholar等平台检索最新研究，使用关键词“PMM2 antibody”、“PMM2-CDG diagnostic methods”。
- 部分研究可能侧重于基因或酶活性分析，明确提及抗体应用的文献相对有限，需仔细筛选。
PMM2 (phosphomannomutase 2) is a key enzyme in the N-glycosylation pathway, catalyzing the conversion of mannose-6-phosphate to mannose-1-phosphate, a critical step in synthesizing lipid-linked oligosaccharides for protein glycosylation. Mutations in the *PMM2* gene cause PMM2-CDG (Congenital Disorder of Glycosylation type Ia), the most common CDG subtype, characterized by multisystemic abnormalities due to impaired glycosylation.
PMM2 antibodies are tools used to detect and quantify PMM2 protein levels in research and diagnostics. These antibodies aid in studying PMM2 expression patterns, stability, and interactions, helping elucidate molecular mechanisms underlying PMM2-CDG. Commercial PMM2 antibodies are typically raised against specific epitopes (e.g., recombinant human PMM2 fragments) and validated for applications like Western blotting, immunofluorescence, or ELISA.
Research using PMM2 antibodies has revealed tissue-specific PMM2 deficiencies and residual enzyme activity in patients, informing therapeutic strategies such as chaperone therapy. However, challenges remain, including antibody specificity and cross-reactivity with homologous proteins. Ongoing efforts focus on refining antibody reliability and developing assays to monitor PMM2 function in clinical settings. Understanding PMM2 biology through antibody-based studies remains vital for advancing CDG diagnostics and targeted therapies.
×
