Myocyte enhancer factor 2 (
MEF2
), a family of transcription factor of
MADS
(minichromosome maintenance 1, agamous, deficiens and serum response factor)-box family needed in the growth and differentiation of a variety of human cells, such as neural, immune, endothelial, and muscles. As per existing literature,
MEF2
transcription factors have also been associated with synaptic plasticity, the developmental mechanisms governing memory and learning, and several neurologic conditions, like autism spectrum disorders (ASDs). Recent genomic findings have ascertained a link between
MEF2
defects, particularly in the
MEF2C
isoform and the ASD. In this review, we summarized a concise overview of the general regulation, structure and functional roles of the
MEF2C
transcription factor. We further outlined the potential role of
MEF2C
as a risk factor for various neurodevelopmental disorders, such as ASD,
MEF2C
Haploinsufficiency Syndrome and Fragile X syndrome.
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