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. [provided by RefSeq, Jul 2010]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| MEF2C-20-RE | 20 (40 μL) | 200 μL |  |
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| MEF2C-20-OR | 20 (40 μL) | 200 μL |  |
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| MEF2C-20-GO | 20 (40 μL) | 200 μL |  |
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| MEF2C-20-GR | 20 (40 μL) | 200 μL |  |
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| MEF2C-20-AQ | 20 (40 μL) | 200 μL |  |
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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. [provided by RefSeq, Jul 2010]
Gene Symbol : MEF2C
Gene Name : Myocyte enhancer factor 2C
Chromosome : CHR 5: 889,041,04-887,182,40
Locus : 5q14.3
Alt. Genes : ZNF263
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