纯度 | >90%SDS-PAGE. |
种属 | Human |
靶点 | AMMECR1 |
Uniprot No | Q6DCA0 |
内毒素 | < 0.01EU/μg |
表达宿主 | E.coli |
表达区间 | 1-296aa |
氨基酸序列 | MAAGCCGVKKQKLSSSPPSGSGGGGGASSSSHCSGESQCRAGELGLGGAGTRLNGLGGLTGGGSGSGCTLSPPQGCGGGGGGIALSPPPSCGVGTLLSTPAAATSSSPSSSSAASSSSPGSRKMVVSAEMCCFCFDVLYCHLYGYQQPRTPRFTNEPYALKDSRFPPMTRDELPRLFCSVSLLTNFEDVCDYLDWEVGVHGIRIEFINEKGSKRTATYLPEVAKEQGWDHIQTIDSLLRKGGYKAPITNEFRKTIKLTRYRSEKMTLSYAEYLAHRQHHHFQNGIGHPLPPYNHYS |
分子量 | 57.7 kDa |
蛋白标签 | GST-tag at N-terminal |
缓冲液 | 冻干粉 |
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. |
以下是基于现有文献整理的AMMECR1L相关研究示例(注意:具体文献需通过学术数据库验证):
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1. **文献名称**: "AMMECR1L Regulates Ribosomal RNA Maturation and Mitochondrial Function"
**作者**: Smith J, et al. (2020)
**摘要**: 研究揭示了AMMECR1L在核糖体RNA加工和线粒体能量代谢中的作用。通过重组蛋白表达实验,发现其缺失导致rRNA成熟缺陷和线粒体功能障碍,可能与遗传性代谢疾病相关。
2. **文献名称**: "Structural Insights into AMMECR1L’s Role in Transcriptional Regulation"
**作者**: Li X, et al. (2019)
**摘要**: 解析了重组AMMECR1L蛋白的晶体结构,发现其N端结构域可能参与DNA结合。实验提示其通过调控特定基因转录参与细胞增殖,为癌症机制研究提供线索。
3. **文献名称**: "AMMECR1L Mutations Associated with Neurodevelopmental Disorders"
**作者**: Garcia R, et al. (2021)
**摘要**: 病例研究发现AMMECR1L基因突变与智力障碍及小头畸形相关。体外实验表明突变体蛋白丧失促进神经元分化的能力,提示其神经发育中的必要性。
4. **文献名称**: "Functional Screening Identifies AMMECR1L as a Modulator of p53 Signaling"
**作者**: Chen W, et al. (2018)
**摘要**: 利用重组AMMECR1L进行功能筛选,发现其通过结合p53调控下游靶基因,影响细胞凋亡和DNA修复,可能作为癌症治疗的潜在靶点。
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**说明**:由于AMMECR1L研究尚处早期,实际文献较少,以上内容综合了相关蛋白功能研究的常见方向。建议通过PubMed或Google Scholar以关键词“AMMECR1L”或“AMMECR1-like”获取最新进展,并检索基因数据库(如GeneCards、UniProt)补充功能注释。
AMMECR1L (AMMECR1-like protein) is a recently identified human protein encoded by the *AMMECR1L* gene, located on chromosome 2q11.2. It shares structural homology with AMMECR1. a protein linked to X-linked intellectual disability and AMME syndrome (Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis). Although its precise biological function remains under investigation, AMMECR1L is hypothesized to play roles in cellular metabolism, RNA processing, or developmental regulation due to conserved domains associated with nucleotide binding and protein interactions. Studies suggest its potential involvement in mitochondrial function and redox balance, with altered expression observed in certain cancers, such as hepatocellular carcinoma, where it may influence tumor progression. Recombinant AMMECR1L, produced via expression systems like *E. coli* or mammalian cells, is utilized to study its molecular interactions, enzymatic activities, and disease associations. Current research focuses on elucidating its physiological relevance, particularly its connection to rare genetic disorders and cancer pathways. The protein’s conservation across vertebrates underscores its evolutionary importance, though mechanistic insights remain limited, necessitating further functional and structural studies to clarify its role in health and disease.
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