Immunogen sequence: TTHPHISIKS EPVSPSRERS PAPPPPAVFP AARPEPGDGL SSPAGGSYET GDRDDGRGDF GPTLGLLRPA PEPEAEGSAV KRMRLDTWTL K; Positive Samples: Mouse kidney; Cellular Location: Nucleus
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: Myocyte-specific enhancer factor 2D
Gene Aliases: C80750; Mef2d
UniProt ID: (Mouse) Q63943
Entrez Gene ID: (Mouse) 17261