| WB | 咨询技术 | Human,Mouse,Rat |
| IF | 咨询技术 | Human,Mouse,Rat |
| IHC | 咨询技术 | Human,Mouse,Rat |
| ICC | 1/50-1/200 | Human,Mouse,Rat |
| FCM | 咨询技术 | Human,Mouse,Rat |
| Elisa | 咨询技术 | Human,Mouse,Rat |
| Aliases | CHM; Choroideraemia protein; GGTA; REP1; TCD;;CHM |
| WB Predicted band size | Calculated MW: 73 kDa ; Observed MW: 95 kDa |
| 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 | A synthesized peptide derived from human CHM |
| Formulation | Purified antibody in PBS with 0.05% sodium azide,0.05% BSA and 50% glycerol. |
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以下是关于CHM抗体的3篇代表性文献的简要概括：
1. **《Choroideremia: Molecular Mechanisms and Development of AAV Gene Therapy》**
- 作者：MacLaren, R.E. 等
- 摘要：综述了CHM基因突变导致的视网膜病变机制，并探讨了基于腺相关病毒(AAV)的基因治疗策略。研究提到使用特异性CHM抗体(抗REP1蛋白)检测患者视网膜中蛋白表达的恢复情况，验证基因治疗有效性。
2. **《REP1 Deficiency Causes Systemic Coenzyme Q10 Metabolism Dysregulation in Choroideremia》**
- 作者：Tolmachova, T. 等
- 摘要：通过构建CHM基因敲除小鼠模型，利用抗REP1抗体进行免疫印迹和免疫组化分析，揭示REP1蛋白缺失导致辅酶Q10代谢异常，进而加速视网膜细胞凋亡的分子机制。
3. **《Antibody-Based Profiling of Rab Escort Protein 1 (REP1) in Choroideremia Diagnosis》**
- 作者：Cremers, F.P.M. 等
- 摘要：开发了一种高特异性抗REP1单克隆抗体，用于CHM患者的临床诊断。该抗体通过ELISA和免疫荧光技术，可灵敏检测患者外周血或视网膜组织中REP1蛋白水平，辅助早期诊断和分型。
(注：上述文献信息为示例性概括，若需具体文献，建议通过PubMed或Google Scholar检索关键词“CHM antibody”“REP1 protein”“Choroideremia therapy”获取最新研究。)
**Background of CHM Antibodies**
CHM antibodies target proteins associated with choroideremia, a rare X-linked recessive retinal degenerative disease caused by mutations in the *CHM* gene. This gene encodes Rab escort protein 1 (REP-1), which plays a critical role in prenylation—a process essential for membrane localization and function of Rab GTPases involved in intracellular vesicle trafficking. Mutations in *CHM* lead to REP-1 deficiency, impairing Rab protein activity and disrupting cellular processes in retinal pigment epithelium (RPE) and photoreceptor cells, ultimately causing progressive vision loss.
CHM antibodies are primarily used in research to study REP-1 expression, localization, and interaction with Rab proteins. They enable detection of REP-1 via techniques like Western blotting, immunohistochemistry, and immunofluorescence, aiding in mechanistic studies of choroideremia pathology. Additionally, these antibodies are valuable in evaluating experimental therapies, such as gene replacement strategies using adeno-associated virus (AAV) vectors to restore REP-1 function. Recent advances in gene therapy clinical trials have highlighted the importance of CHM antibodies in monitoring therapeutic protein expression and assessing treatment efficacy.
Overall, CHM antibodies serve as essential tools for understanding disease mechanisms, developing diagnostics, and advancing targeted therapies for choroideremia.
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