| 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 | AMME syndrome candidate gene 1 protein, AMMECR1 |
| Entrez GeneID | 9949 |
| WB Predicted band size | 35.5kDa |
| 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 |
| Immunogen | This AMMECR1 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 271-298 amino acids from the C-terminal region of human AMMECR1. |
| Formulation | Purified antibody in PBS with 0.05% sodium azide. |
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以下是3篇涉及AMMECR1抗体的研究文献摘要示例(注：文献标题和作者为虚构示例，实际引用需核实)：
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1. **标题**: *AMMECR1 gene disruption links X-linked cardiac and skeletal developmental defects*
**作者**: Gécz, J. et al. (2003)
**摘要**: 研究通过Western blot和免疫组化验证AMMECR1抗体特异性，发现该蛋白在小鼠心脏和骨骼肌发育中高表达，基因缺失导致胚胎心脏异常，提示其在器官形成中的调控作用。
2. **标题**: *AMMECR1 mutations cause a novel neurodevelopmental syndrome with cardiac involvement*
**作者**: Maroofian, R. et al. (2020)
**摘要**: 通过外显子测序发现AMMECR1突变导致X连锁神经发育障碍，使用患者细胞系和AMMECR1抗体检测显示突变引起蛋白表达量显著下降，功能丧失影响染色质修饰通路。
3. **标题**: *Expression and functional analysis of AMMECR1 in human tissues*
**作者**: Dulon, J. et al. (2015)
**摘要**: 研究利用AMMECR1抗体进行免疫荧光定位，发现该蛋白在人类胎脑、心脏及肾脏中富集于细胞核，RNAi敲低实验表明其参与调控细胞周期相关基因表达。
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**提示**：实际文献需通过PubMed/Google Scholar以关键词"AMMECR1 antibody"或"AMMECR1 protein"检索，并关注其抗体验证方法(如KO细胞验证、应用场景等)。
AMMECR1 (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis chromosomal region gene 1) is a protein-coding gene located on the X chromosome (Xq22.3). It has gained attention due to its association with X-linked disorders, particularly AMME (Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis) syndrome. The gene is implicated in developmental and neurological processes, though its precise molecular functions remain under investigation. Studies suggest AMMECR1 may play roles in transcriptional regulation, RNA processing, or cell cycle control, potentially interacting with chromatin-modifying complexes.
AMMECR1 antibodies are crucial research tools for detecting and characterizing the protein's expression, localization, and interactions. They enable investigations into tissue-specific expression patterns, particularly in organs like the kidney, brain, and heart, which align with clinical features observed in AMME syndrome. Researchers employ these antibodies in techniques such as Western blotting, immunohistochemistry, and immunofluorescence to study AMMECR1's involvement in developmental pathways and disease mechanisms. Recent studies also explore potential links between AMMECR1 dysregulation and cancers, including leukemia, highlighting its broader relevance in cellular homeostasis. The development of specific, validated AMMECR1 antibodies remains essential for advancing understanding of its pathophysiological roles and therapeutic potential.
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