MEF2C

(redirected from C5DELq14.3; DEL5q14.3)

MEF2C

A 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.
  
Molecular pathology
MEF2C mutations and deletions are associated with severe mental retardation, stereotypic movements, epilepsy and cerebral malformation.