TUBA1A基因介绍

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TUBA1A基因介绍 was created by 凤凰

基因产物:微管蛋白α1A。

蛋白功能:属于微管蛋白家族的一部分,对脑发育早期细胞的迁移起到重要作用。

相关疾病: 无脑回畸形 (AD)[1]; 多小脑回畸形 (AD)[2]; West 综合征 [3]。 


参考文献
  1. Poirier, K., et al., Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A).Hum Mutat, 2007. 28(11): p. 1055-64.
  2. Zanni, G., et al., Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis. Eur J Paediatr Neurol, 2013. 17(4): p. 361-5.
  3. Pavone, P., et al., West syndrome: a comprehensive review. Neurol Sci, 2020. 41(12): p. 3547-3562.
26 May 2022 10:41 #1

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