Entrez gene ID | | 4208 |
Official gene symbol | | MEF2C |
Full name | | myocyte enhancer factor 2C |
Aliases | | ,-, |
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 mental retardation, stereotypic movements, epilepsy, and cerebral malformation. Alternatively spliced transcript variants have been described. [provided by RefSeq] |
Location | | Chromosome: 5 Locus: 5q14 |
Gene position | | 88199922 - 88014058 Map Viewer |
Gene orientation | | minus |
Gene size | | 185865 bp |
Gene sequence |
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OMIM ID | | 600662 |
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