2024年12月25日 · SHANK1 (SH3 And Multiple Ankyrin Repeat Domains 1) is a Protein Coding gene. Diseases associated with SHANK1 include Cleft Palate, Isolated and Autism Spectrum Disorder. Among its related pathways are Protein-protein interactions at synapses and Transmission across Chemical Synapses.

SHANK1 is a scaffold protein that plays a critical role in the formation and maintenance of excitatory synapses in the brain. Mutations in the SHANK1 gene have been implicated in a number of neurodevelopmental disorders, including autism spectrum disorder (ASD), schizophrenia, and intellectual disability.

2022年4月6日 · In this study, by sequencing the SHANK1 gene in a cohort of 615 ASD patients and 503 controls, we identified an ASD-specific recurrent missense mutation, c.2621 G > A (p.R874H). This mutation...

2017年2月9日 · SH3 and multiple ankyrin repeat domains proteins (SHANKs) are encoded by SHANK1, SHANK2 and SHANK3 genes. The three different SHANK genes can produce multiple protein isoforms that are...

2022年4月9日 · 除NRXN1外，我们还发现突触骨架蛋白SHANK1是Suv39h1调控记忆稳定性的主要靶点之一。Shank1的表达在学习过程中短暂地参与促进突触发生，并在学习5小时后被Suv39h1强烈抑制。在齿状回中外源性过表达Shank1会增加蘑菇样树突棘的密度，并损害原有记忆 …

2022年10月18日 · SHANK family proteins are encoded by three genes, namely Shank1, Shank2, and Shank3. To begin, observations highlighting the importance of SHANK in human health have been made in the context of...

为了在体内水平确认并系统研究该突变对孤独症的致病性，研究人员构建了同源突变敲入小鼠模型（Shank1 R882H-KI），且鉴定到社交障碍和刻板重复行为这两个孤独症样核心症状表型。

2022年10月25日 · shank蛋白家族包括shank1、shank2 和shank3，是位于兴奋性神经元突触后致密区的主要支架蛋白，在突触功能中发挥着关键作用。 SHANK基因突变可以引起人体多种生理、病理过程的改变，例如细胞命运决定、干细胞调控、神经元成熟等，最终导致多种疾病的发生，包 …

Recently, deletions and point mutations of the SHANK1 gene have been detected in ASD individuals, indicating the involvement of SHANK1 in ASD. This review focuses on the function of SHANK1 protein, Shank1 mouse models, and the molecular genetics of the …

该家族的成员充当神经元突触发育和功能所需的支架蛋白。 该基因的缺失可能与男性自闭症谱系障碍有关。 [RefSeq 提供，2016 年 4 月] This gene encodes a member of the SHANK (SH3 domain and ankyrin repeat containing) family of proteins. Members of this family act as scaffold proteins that are required for the development and function of neuronal synapses.