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 mental retardation, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described.
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Protein Aliases: C5DELq14.3; DEL5q14.3, MADS box transcription enhancer factor 2, polypeptide C, myocyte-specific enhancer factor 2C; MADS box transcription enhancer factor 2, polypeptide C; Myocyte enhancer factor 2C; Myocyte-specific enhancer factor 2C
Gene Aliases: C5DELq14.3; DEL5q14.3; MEF2C
UniProt ID: (Human) Q06413
Entrez Gene ID: (Human) 4208