GRIA3基因介绍

  • 凤凰
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GRIA3基因介绍 was created by 凤凰

基因产物:离子型谷氨酸受体,AMPA型,亚单位3。

蛋白功能:在中枢神经系统中起配体门控离子通道的作用,在兴奋性突触传递中起重要作用。

相关疾病:X连锁智力障碍综合征,Wu型(XLR)[1],癫痫性脑病[2]。

相关临床研究:PubMed数据库(PMID:  17989220 (Proc Natl Acad Sci U S A. 2007) ;PMID: 32977175 (Seizure. 2020) ) 


参考文献
  1. Wu, Y., et al., Mutations in ionotropic AMPA receptor 3 alter channel properties and are associated with moderate cognitive impairment in humans. Proc Natl Acad Sci U S A, 2007. 104(46): p. 18163-8.
  2. Trivisano, M., et al., GRIA3 missense mutation is cause of an x-linked developmental and epileptic encephalopathy. Seizure, 2020. 82: p. 1-6.
25 May 2022 17:47 #1

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