ARHGEF9基因介绍

  • 凤凰
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ARHGEF9基因介绍 was created by 凤凰

基因产物:Rho鸟苷交换因子9。

蛋白功能:属于大脑特异性鸟嘌呤核苷酸交换因子,在突触后甘氨酸和抑制性γ-氨基丁酸受体簇的形成中具有关键作用。

相关疾病:早发性癫痫脑病(XLR)[1]。 


参考文献
  1. Shimojima, K., et al., Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.J Hum Genet, 2011. 56( 8 ): p. 561-5.
25 May 2022 15:01 #1

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