MEF2C is strongly linked to various neurodevelopmental disorders including autism, intellectual disability, schizophrenia, and attention-deficit/hyperactivity disorder. Mice that constitutively lack 1 copy of Mef2c or selectively lack both copies of Mef2c in cortical excitatory neurons display a variety of behavioral phenotypes associated with neurodevelopmental disorders. The MEF2C protein is a transcription factor necessary for cellular development and synaptic modulation of excitatory neurons. MEF2C is also expressed in a subset of cortical GABAergic (gamma-aminobutyric acidergic) inhibitory neurons, but its function in those cell types remains largely unknown.

中文翻译：

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内侧神经节隆起来源的皮质抑制性中间神经元中 Mef2c 的发育破坏损害细胞和回路功能


MEF2C 与各种神经发育障碍密切相关，包括自闭症、智力障碍、精神分裂症和注意力缺陷/多动障碍。在皮质兴奋性神经元中组成性缺乏 1 个 Mef2c 拷贝或选择性缺乏 2 个 Mef2c 拷贝的小鼠表现出与神经发育障碍相关的各种行为表型。MEF2C 蛋白是兴奋性神经元的细胞发育和突触调节所必需的转录因子。MEF2C 也在皮质 GABA 能（γ-氨基丁酸能）抑制神经元的亚群中表达，但其在这些细胞类型中的功能在很大程度上仍然未知。