Background

MEF2C (Myocyte Enhancer Factor 2C) is a Protein Coding gene. Diseases associated with MEF2C include Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language and Autism Spectrum Disorder. Among its related pathways are MyD88 dependent cascade initiated on endosome and Gene expression (Transcription). Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and protein heterodimerization activity. An important paralog of this gene is MEF2A. Transcription activator which binds specifically to the MEF2 element present in the regulatory regions of many muscle-specific genes. Controls cardiac morphogenesis and myogenesis, and is also involved in vascular development. Enhances transcriptional activation mediated by SOX18. Plays an essential role in hippocampal-dependent learning and memory by suppressing the number of excitatory synapses and thus regulating basal and evoked synaptic transmission. Crucial for normal neuronal development, distribution, and electrical activity in the neocortex. Necessary for proper development of megakaryocytes and platelets and for bone marrow B-lymphopoiesis. Required for B-cell survival and proliferation in response to BCR stimulation, efficient IgG1 antibody responses to T-cell-dependent antigens and for normal induction of germinal center B-cells. May also be involved in neurogenesis and in the development of cortical architecture (By similarity). Isoforms that lack the repressor domain are more active than isoform 1. ( MEF2C_HUMAN,Q06413 )