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.
Aliases ： DEL5q14.3; C5DELq14.3
Entrez GeneID ： 4208
Swissprot ： Q06413
WB Predicted band size： 51.2kDa
Host/Isotype ： Mouse IgG1
Species Reactivity： Human,Mouse,Rat,Rabbit,Monkey
Immunogen： Purified recombinant fragment of human MEF2C (AA: 1-125) expressed in E. Coli.
