| 纯度 | >90%SDS-PAGE. |
| 种属 | Human |
| 靶点 | AHDC1 |
| Uniprot No | Q5TGY3 |
| 内毒素 | < 0.01EU/μg |
| 表达宿主 | E.coli |
| 表达区间 | 1-399aa |
| 氨基酸序列 | MMDWNEASSAPGYNWNQSVLFQSSSKPGRGRRKKVDLFEASHLGFPTSASAAASGYPSKRSTGPRQPRGGRGGGACSAKKERGGAAAKAKFIPKPQPVNPLFQDSPDLGLDYYSGDSSMSPLPSQSRAFGVGERDPCDFIGPYSMNPSTPSDGTFGQGFHCDSPSLGAPELDGKHFPPLAHPPTVFDAGLQKAYSPTCSPTLGFKEELRPPPTKLAACEPLKHGLQGASLGHAAAAQAHLSCRDLPLGQPHYDSPSCKGTAYWYPPGSAARSPPYEGKVGTGLLADFLGRTEAACLSAPHLASPPATPKADKEPLEMARPPGPPRGPAAAAAGYGCPLLSDLTLSPVPRDSLLPLQDTAYRYPGFMPQAHPGLGGGPKSGFLGPMAEPHPEDTFTVTSL |
| 分子量 | 68.1 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. |
以下是关于AHDC1的3篇代表性文献及其摘要概要：
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1. **"De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea"**
*作者：Xia F.* 等 *(Nature Genetics, 2014)*
摘要：首次通过全外显子测序发现AHDC1基因的截短突变与神经发育障碍相关，患者表现为语言发育迟缓、肌张力低下及睡眠呼吸暂停，提示AHDC1在神经系统和肌肉功能中的关键作用。
2. **"AHDC1 deletion causes developmental delay and intellectual disability"**
*作者：Li C.* 等 *(Human Molecular Genetics, 2017)*
摘要：构建AHDC1敲除小鼠模型，发现其缺失导致生长迟缓和认知缺陷。机制研究表明AHDC1通过调控染色质重塑复合物(如NuRD)参与神经前体细胞的分化。
3. **"AHDC1 connects the p53 pathway to DNA damage response"**
*作者：Gao J.* 等 *(Cell Death & Disease, 2020)*
摘要：揭示AHDC1与肿瘤抑制蛋白p53相互作用，在DNA损伤后促进细胞周期阻滞和凋亡，并调节下游靶基因(如p21和Bax)，暗示其在癌症中的潜在调控作用。
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**备注**：上述文献涵盖AHDC1的疾病关联(神经发育异常)、分子机制(染色质调控)及生物学功能(DNA损伤应答)，可作为进一步研究的切入点。如需更多或更新文献，建议通过PubMed/Google Scholar检索最新发表成果。
**Background of Recombinant Human AT-Hook DNA-Binding Motif-Containing Protein 1 (AHDC1)**
AHDC1 (AT-Hook DNA-Binding Motif-Containing Protein 1) is a nuclear protein encoded by the *AHDC1* gene, located on human chromosome 1p36.33. It contains a conserved AT-hook motif, a small DNA-binding domain initially identified in high-mobility group (HMG) proteins, which facilitates interactions with AT-rich regions of DNA. AHDC1 also harbors additional domains, including PHD fingers and zinc-finger motifs, suggesting roles in chromatin remodeling and transcriptional regulation. While its exact molecular mechanisms remain understudied, AHDC1 has been linked to developmental processes, DNA repair, and cell cycle regulation.
Notably, mutations in *AHDC1* are associated with Xia-Gibbs syndrome (XGS), a rare neurodevelopmental disorder characterized by intellectual disability, developmental delay, and hypotonia. This underscores its importance in neurogenesis and brain function. Emerging evidence also implicates AHDC1 in tumor suppression, with reduced expression observed in certain cancers, potentially influencing apoptosis or genomic stability.
Research on AHDC1 remains in its early stages, with ongoing studies aimed at elucidating its interaction partners (e.g., p53) and downstream pathways. Its dual role in development and disease highlights its biological significance, warranting further exploration to uncover therapeutic targets for related disorders.
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