基因产物：转录因子4。

蛋白功能：作为转录因子可与E盒结合激活转录，和神经元最初的分化相关。

相关疾病：Fuchs角膜营养不良3型（AD）[1]；Pitt-Hopkins 综合症（皮特霍普金斯综合症）（AD）[2]； West 综合征 [3]。 


参考文献

1. Riazuddin, S.A., et al., Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus.Invest Ophthalmol Vis Sci, 2011. 52(5): p. 2825-9.
2. Zweier, C., et al., Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.J Med Genet, 2008. 45(11): p. 738-44.
3. McTague, A., et al., The genetic landscape of the epileptic encephalopathies of infancy and childhood. Lancet Neurol, 2016. 15(3): p. 304-16.