MEF2C(redirected from MADS box transcription enhancer factor 2, polypeptide C)
MEF2CA gene on chromosome 5q14 that encodes a member of the MADS-box transcription enhancer factor 2 (MEF2) family of proteins, which are DNA binding and trans-activating and play a role in myogenesis; MEF2C may also be involved in neurogenesis and in the development of cortical architecture.
MEF2C mutations and deletions are associated with severe mental retardation, stereotypic movements, epilepsy and cerebral malformation.
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