FOXG1基因介绍
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凤凰
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Topic Author
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Elite Member
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基因产物:叉头框G1蛋白。
蛋白功能:作为转录抑制因子可与特点的DNA位点结合影响一些基因的表达,在大脑的发育中发挥作用。
相关疾病:先天变异性Rett综合症(AD)[1],
Lennox-Gastaut综合征
(AD)[2],
West 综合征
[3]。
参考文献
- Ariani, F., et al., FOXG1 is responsible for the congenital variant of Rett syndrome.Am J Hum Genet, 2008. 83(1): p. 89-93.
- Mastrangelo, M., Lennox-Gastaut Syndrome: A State of the Art Review. Neuropediatrics, 2017. 48(3): p. 143-151.
- Striano, P., et al., West syndrome associated with 14q12 duplications harboring FOXG1. Neurology, 2011. 76(18): p. 1600-2.
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