Sequence of this protein is as follows: MGRKKIQIQR ITDERNRQVT FTKRKFGLMK KAYELSVLCD CEIALIIFNH SNKLFQYAST DMDKVLLKYT EYNEPHESRT NADIIETLRK KGFNGCDSPE PDGEDSLEQS PLLEDKYRRA SEELDGLFRR YGSTVPAPNF AMPVTVPVSN QSSLQFSNPS GSLVTPSLVT SSLTDPRLLS PQQPALQRNS VSPGLPQRPA SAGAMLGGDL NSANGACPSP VGNGYVSARA SPGLLPVANG NSLNKVIPAK SPPPPTHSTQ LGAPSRKPDL RVITSQAGKG LMHHLTEDHL DLNNAQRLGV SQSTHSLTTP VVSVATPSLL SQGLPFSSMP TAYNTDYQLT SAELSSLPAF SSPGGLSLGN VTAWQQPQQP QQPQQPQPPQ QQPPQPQQPQ PQQPQQPQQP PQQQSHLVPV SLSNLIPGSP LPHVGAALTV TTHPHISIKS EPVSPSRERS PAPPPPAVFP AARPEPGDGL SSPAGGSYET GDRDDGRGDF GPTLGLLRPA PEPEAEGSAV KRMRLDTWTL K
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: DKFZp686I1536; MADS box transcription enhancer factor 2, polypeptide D; MEF2D/DAZAP1 fusion; Myocyte-specific enhancer factor 2D
Gene Aliases: MEF2D
UniProt ID: (Human) Q14814
Entrez Gene ID: (Human) 4209