Gene: MEF2C

Alternate names for this Gene: C5DELq14.3|DEL5q14.3

Gene 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.

Gene is located in Chromosome: 5

Location in Chromosome : 5q14.3

Description of this Gene: myocyte enhancer factor 2C

Type of Gene: protein-coding

Gene: MEF2C-AS2

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