中南医学科学杂志2026，Vol.54Issue(1)：1-6,6.DOI:10.15972/j.cnki.43-1509/r.2026.01.001
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
摘要
Abstract
Contact-associated protein-like 2(CNTNAP2)is one of the largest and highly conserved genes in the human ge-nome,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 de-velopment,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.关键词
CNTNAP2/蛋白结构/生理功能/蛋白片段/神经发育障碍/癌症Key words
CNTNAP2/protein structure/physiological functions/protein fragment/neurodevelopmental disorder/cancer分类
医药卫生引用本文复制引用
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,2026,54(1):1-6,6.基金项目
国家自然科学基金面上项目(30971469) （30971469）
湖南省科技创新重点工程项目(2021SK1014) （2021SK1014）
湖南省研究生科研创新项目(CX20210916) （CX20210916）
