This gene is a member of the myocyte-specific enhancer factor 2 (MEF2) family of transcription factors. Members of this family are involved in control of muscle and neuronal cell differentiation and development, and are regulated by class II histone deacetylases. Fusions of the encoded protein with Deleted in Azoospermia-Associated Protein 1 (DAZAP1) due to a translocation have been found in an acute lymphoblastic leukemia cell line, suggesting a role in leukemogenesis. The encoded protein may also be involved in Parkinson disease and myotonic dystrophy. Alternative splicing results in multiple transcript variants.
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Protein Aliases: MADS box transcription enhancer factor 2; MADS box transcription enhancer factor 2, polypeptide D; MEF2D/DAZAP1 fusion; myocyte enhancer factor 2D/deleted in azoospermia associated protein 1 fusion protein; Myocyte-specific enhancer factor 2D; polypeptide D (myocyte enhancer factor 2D)
Gene Aliases: MEF2D
UniProt ID: (Human) Q14814
Entrez Gene ID: (Human) 4209