KIDINS220 - kinase D interacting substrate 220 Gene

中文名称：激酶 D 相互作用底物 220

种属: Homo sapiens

同用名: ARMS; SINO; VENARG

关于 KIDINS220

功能概要

该基因编码一种优先在神经系统中表达的跨膜蛋白，它控制神经元细胞的存活、分化为外显子和树突以及突触可塑性。编码的蛋白质与膜受体、细胞溶质信号成分和细胞骨架蛋白相互作用，充当介导神经营养蛋白通路和其他几种细胞内信号通路之间串扰的支架。该基因的异常表达与各种神经精神疾病和神经退行性疾病 (包括阿尔茨海默氏病) 的发生有关。该基因中自然发生的突变与以痉挛性截瘫、智力障碍、眼球震颤和肥胖为特征的综合征有关。可变剪接导致多个转录本变体。[RefSeq 提供，2017 年 2 月]

This gene encodes a transmembrane protein that is preferentially expressed in the nervous system where it controls neuronal cell survival, differentiation into exons and dendrites, and synaptic plasticity. The encoded protein interacts with membrane receptors, cytosolic signaling components, and cytoskeletal proteins, serving as a scaffold that mediates crosstalk between the neurotrophin pathway and several Other intracellular signaling pathways. Aberrant expression of this gene is associated with the onset of various neuropsychiatric disorders and neurodegenerative diseases, including Alzheimer's disease. Naturally occurring mutations in this gene are associated with a syndrome characterized by spastic paraplegia, intellectual disability, nystagmus and obesity. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]