SPTAN1基因介绍

  • 凤凰
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SPTAN1基因介绍 was created by 凤凰

基因产物：α-胞衬蛋白。

蛋白功能：是一种丝状细胞骨架蛋白，对稳定质膜以及细胞器起到重要作用。

相关疾病： West 综合征 （AD）[1]； 癫痫伴肌阵挛失张力发作（Doose syndrome） （AD）[2]。 


参考文献
  1. Nonoda, Y., et al., Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation.Brain Dev, 2013. 35(3): p. 280-3.
  2. Syrbe S., et al., Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy. Brain 2017; 140: 2322-2336.
26 May 2022 10:11 #1

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