| 叶玉,朱琳,王丹玲.CNTNAP2的结构、功能及其与疾病关系的研究进展.[J].中南医学科学杂志.,2026,(1):1-6. |
| CNTNAP2的结构、功能及其与疾病关系的研究进展 |
| Research progress about the structure and function of CNTNAP2 and the relationship with diseases |
| 投稿时间：2025-04-14 修订日期：2025-11-18 |
| DOI：10.15972/j.cnki.43-1509/r.2026.01.001 |
| 中文关键词: CNTNAP2 蛋白结构 生理功能 蛋白片段 神经发育障碍 癌症 |
| 英文关键词:CNTNAP2 protein structure physiological functions protein fragment neurodevelopmental disorder cancer |
| 基金项目:国家自然科学基金面上项目(30971469)；湖南省科技创新重点工程项目(2021SK1014)；湖南省研究生科研创新项目(CX20210916) 作者简介:叶玉,硕士研究生,研究方向为神经退行性疾病,E-mail为2755167320@qq.com。通信作者王丹玲,博士,教授,博士研究生导师,研究方向为神经退行性疾病,E-mail为danlingwang@usc.edu.cn。 |
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| 中文摘要: |
| 接触蛋白相关蛋白2(contact-associated protein-like 2,CNTNAP2)是人类基因组中庞大且进化高度保守的基因之一,存在4种主要蛋白质编码转录本,即CNTNAP2-201、CNTNAP2-203、CNTNAP2-205和CNTNAP2-207。CNTNAP2编码的蛋白质,以全长形式或者产生的蛋白水解片段,在动作电位传导、神经发育等关键生理过程中扮演重要角色。研究表明,CNTNAP2基因的突变或其蛋白表达的异常与神经发育障碍性疾病和癌症等多种人类疾病密切相关。本综述系统总结了CNTNAP2的表达特征、蛋白结构、生理功能及其在疾病中的作用,并对未来研究方向进行了展望。 |
| 英文摘要: |
| AimContact-associated protein-like 2 (CNTNAP2) is one of the largest and highly conserved genes in the human genome, with four main protein coding transcripts, namely CNTNAP2-201, CNTNAP2-203, CNTNAP2-205, and CNTNAP2-207. The protein encoded by CNTNAP2 plays an important role in key physiological processes such as action potential conduction and neural development, either in full-length form or as a protein hydrolysate fragment. Researches have shown that mutations in the CNTNAP2 gene or abnormal protein expression are closely related to various human diseases such as neurodevelopmental disorders and cancer. This review systematically summarizes the expression characteristics, protein structure, physiological functions, and roles of CNTNAP2 in diseases, and provides prospects for future research directions. |
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