Contactin-associated protein-like 2 is a protein that in humans is encoded by the CNTNAP2 gene. [5] [6] [7] This gene encodes a member of the neurexin family which functions in the vertebrate nervous system as cell adhesion molecules and receptors. This protein, like other neurexin proteins, contains epidermal growth factor repeats and laminin ...

2025年3月30日 · CNTNAP2 (Contactin Associated Protein 2) is a Protein Coding gene. Diseases associated with CNTNAP2 include Pitt-Hopkins-Like Syndrome 1 and Autism 15. Among its related pathways are Primary ovarian insufficiency and Neuroscience. Gene Ontology (GO) annotations related to this gene include enzyme binding.

2023年6月5日 · 接触蛋白相关蛋白样2的编码基因（Contactin-associated protein-like 2， CNTNAP2）是一个被广泛验证的孤独症易感基因， CNTNAP2 基因敲除小鼠（Cntnap2-/-）也表现出孤独症核心症状，其编码的CNTNAP2蛋白定位于神经元突触后膜，属于突触粘附分子（Neurexins）超家族，是一个典型的多结构域I型跨膜蛋白。...

The CNTNAP2 gene encodes Contactin-associated protein 2 or CASPR2, a neuronal cell-adhesion protein. CNTNAP2 is the largest gene in the human genome. In the brain and the rest of the nervous system, the CNTNAP2 protein is involved in interactions between neurons and between neurons and glial cells.

2025年2月8日 · CNTNAP2 gene has been found to be associated with language disorders and sequential learning and phonological buffer's performances. Mutations in CNTNAP2 have been associated with language impairments at a behavioral …

2024年3月1日 · Mutations in the Contactin-associated protein-like 2 (CNTNAP2) gene are associated with autism spectrum disorder (ASD), and ectodomain shedding of the CNTNAP2 protein plays a role in its...

2022年10月17日 · In this study, we performed an integrative multi-omics analysis by combining quantitative proteometabolomic data obtained with Cntnap2 knockout (KO) mice with multi-omics data obtained from ASD...

研究中，作者重点关注了两个ASD易感基因，即 CNTNAP2 （接触蛋白相关蛋白样2基因）和 AHI1 （Abelson辅助整合位点1基因），在突触功能和行为中的作用、以及可能性的治疗。 癫痫儿童中，CNTNAP2的突变表现为癫痫发作、语言退化、智力障碍、多动症和ASD样行为；小鼠中敲除或敲低（KD）CNTNAP2会导致ASD样行为、神经网络异常活动、以及突触成熟和功能的异常 【7-9】。 而AHI1的突变会引起 Joubert综合征，表现为小脑蚓部发育不全、认知障碍和发育迟 …

2013年5月29日 · This review considers the evidence implicating CNTNAP2 in these conditions, the genetic risk factors and mutations that have been identified in patient and population studies and how these relate...

2023年6月6日 · 接触蛋白相关蛋白样2的编码基因（Contactin-associated protein-like 2，CNTNAP2）是一个被广泛验证的孤独症易感基因，CNTNAP2基因敲除小鼠（Cntnap2-/-）也表现出孤独症核心症状，其编码的CNTNAP2蛋白定位于神经元突触后膜，属于突触粘附分子（Neurexins）超家族，是一个典型 ...