菜单 基因医生

这一基因编码了一个蛋白家族成员。这个家族的成员在脊椎动物神经系统中作为细胞粘附分子和受体发挥作用。该蛋白包含表皮生长因子重复序列和层粘连蛋白G结构域此外,它还包括F5/8型C结构域、discoidin/neuropilin-和fibrinogen样结构域以及血栓反应蛋白N-末端样结构域这种蛋白质也可能在多巴胺能和γ-氨基丁酸能系统的适当神经传递中发挥作用,这种基因的突变可能与某些精神疾病有关。该基因内含子的多态性可能与寿命有关。[由RefSeq提供,2016年4月]
This gene encodes a member of the neurexin protein family. Members of this family function in the vertebrate nervous system as cell adhesion molecules and receptors. This protein contains epidermal growth factor repeats and laminin G domains. In addition, it includes an F5/8 type C domain, discoidin/neuropilin- and fibrinogen-like domains, and thrombospondin N-terminal-like domains. This protein may also play a role in proper neurotransmission in the dopaminergic and GABAergic systems and mutations in this gene may be associated with certain psychiatric illnesses. A polymorphism in an intron of this gene may be associated with longevity. [provided by RefSeq, Apr 2016]

基因名:CNTNAP4
别名:CASPR4
基因ID:85445
Chromosome:
(GRCh37)
16 Start: 76311176 End: 76593135 Strand: 
信号通路:  
CNTNAP4 基因突变与药物