MEF2C, Official Symbol MEF2Cprovided by HGNC Official Full Name myocyte enhancer factor 2Cprovided by HGNC Primary source HGNC:HGNC:6996 See related Ensembl:ENSG00000081189 MIM:600662; AllianceGenome:HGNC:6996 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as NEDHSIL; DEL5q14.3; C5DELq14.3 Summary This locus encodes a member of the MADS box transcription enhancer factor 2 (MEF2) family of proteins, which play a role in myogenesis. The encoded protein, MEF2 polypeptide C, has both trans-activating and DNA binding activities. This protein may play a role in maintaining the differentiated state of muscle cells. Mutations and deletions at this locus have been associated with severe cognitive disability, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2010] Expression Broad expression in brain (RPKM 55.2), lymph node (RPKM 17.7) and 19 other tissues See more Orthologs mouse all