This antibody reacts with the MECP2 and phosphorylated MECP2 proteins. The calculated molecular weight of MECP2 is 52 kDa, but the post-modified MECP2 protein is about 75-80 kDa.
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