
DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2| MBD1| MBD2| MBD3| and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins| with the exception of MBD3| is capable of binding specifically to methylated DNA. MECP2| MBD1 and MBD2 can also repress transcription from methylated gene promoters. The protein encoded by this gene may function as a mediator of the biological consequences of the methylation signal. It is also reported that the this protein functions as a demethylase to activate transcription| as DNA methylation causes gene silencing. Two transcript variants encoding different isoforms have been found for this gene.

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