|Other Names||Methyl-CpG-binding protein 2, MeCp-2 protein, MeCp2, MECP2|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC).|
|Cellular Location||Nucleus. Note=Colocalized with methyl-CpG in the genome|
|Tissue Location||Present in all adult somatic tissues tested.|
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DNA methylation is the major modification of eukaryoticgenomes and plays an essential role in mammalian development. Humanproteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family ofnuclear proteins related by the presence in each of a methyl-CpGbinding domain (MBD). Each of these proteins, with the exception ofMBD3, is capable of binding specifically to methylated DNA. MECP2,MBD1 and MBD2 can also repress transcription from methylated genepromoters. In contrast to other MBD family members, MECP2 isX-linked and subject to X inactivation. MECP2 is dispensible instem cells, but is essential for embryonic development. MECP2 genemutations are the cause of most cases of Rett syndrome, aprogressive neurologic developmental disorder and one of the mostcommon causes of mental retardation in females. [provided byRefSeq].
Shapiro, J.R., et al. Pediatr. Res. 68(5):446-451(2010)Pintaudi, M., et al. Epilepsy Behav (2010) In press :Jain, D., et al. Pediatr. Neurol. 43(1):35-40(2010)Harvey, C.G., et al. Am. J. Med. Genet. B Neuropsychiatr. Genet. 144B (3), 355-360 (2007) :Francke, U. Nat Clin Pract Neurol 2(4):212-221(2006)
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