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Gene : MEF2C Homo sapiens

Name  ? myocyte enhancer factor 2C Cytological Location  5q14.3
Brief Description  myocyte enhancer factor 2C
description  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]
  • synonyms:
  • DEL5q14.3,
  • HGNC:6996,
  • OTTHUMG00000162634,
  • MEF2C,
  • NM_002397,
  • C5DELq14.3,
  • AL833268,
  • uc003kjl.4
  • identifiers:
  • 4208,
  • ENSG00000081189,
  • MEF2C

Genome feature

Region: gene ? Length: 185865  
Location: 5:88718241-88904105 reverse strand Cyto location: 5q14.3


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Proteins

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SNPs

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Disease

1 Diseases

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Expression

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Other

5 SN Ps

5 Cross References

20 Data Sets

13 Homologues

0 Located Features

90 Rna Seq Results