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. In contrast to other MBD family members, MECP2 is X-linked and subject to X inactivation. MECP2 is dispensible in stem cells, but is essential for embryonic development. MECP2 gene mutations are the cause of most cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of cognitive disability in females. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Oct 2015]
Alternative Names
DKFZp686A24160 MeCP-2 meCP-2 protein MECP2A methyl CpG binding protein 2 (Rett syndrome) isoform MECP2_1 methyl CpG binding protein 2 (Rett syndrome) isoform MECP2_2 methyl CpG binding protein 2 (Rett syndrome) isoform MECP2_3 methyl CpG binding protein 2 (Rett syndrome) isoform MECP2_5 methyl CpG binding protein 2 (Rett syndrome) isoform MECP2_6 methyl CpG binding protein 2 (Rett syndrome) isoform MECP2_7 methyl CpG binding protein 2 (Rett syndrome) isoform MECP2_8 Rett Syndrome transcript 1 Rett syndrome MECP2B transcript variant transcriptional repressor involved in Rett syndrome disease