MECP2 belongs to a family of nuclear proteins (including MBD1, MBD2, MBD3 and MBD4) that have a methyl-CpG binding domain. MECP2 is capable of binding specifically to methylated DNA. DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. MECP2 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 mental retardation in females.
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Protein Aliases: DKFZp686A24160; MeCp-2 protein; methyl CpG binding protein 2; Methyl-CpG-binding protein 2; testis tissue sperm-binding protein Li 41a
Gene Aliases: 1500041B07Rik; AUTSX3; D630021H01Rik; Mbd5; MECP2; MRX16; MRX79; MRXS13; MRXSL; PPMX; RS; RTS; RTT; WBP10
Molecular Function: DNA metabolism protein