MEF2C

protein-coding External Resolution
GeneCards NCBI PubMed

External Info (via mygene)

SymbolMEF2C
Namemyocyte enhancer factor 2C
Typeprotein-coding
Sourcemygene

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 transcri

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This is an externally resolved entity

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