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
- 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.
- 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.
- Pavone, P., et al., West syndrome: a comprehensive review. Neurol Sci, 2020. 41(12): p. 3547-3562.