MECP2
MECP2 (methyl-CpG binding protein 2) is a chromosomal protein that binds methylated DNA and mediates transcriptional repression. Also known as RTT, MRX16 and MRX79, it is the gene most often mutated in Rett syndrome. Browse Assay Genie's current range of MECP2 research reagents below, or read on for the biology behind the target.
MECP2 is a chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair, and this binding is not influenced by the sequences flanking the methyl-CpGs. The protein recognises both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC) in DNA, with a preference for 5mC. Once bound, MECP2 mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A.
MECP2 belongs to the methyl-CpG binding domain (MBD) family of nuclear proteins, which in humans also includes MBD1, MBD2, MBD3 and MBD4. Each member carries a methyl-CpG binding domain. All except MBD3 can bind specifically to methylated DNA, and MECP2, MBD1 and MBD2 can also repress transcription from methylated gene promoters. Unlike the other family members, the MECP2 gene is X-linked and subject to X inactivation. Alternative splicing produces multiple transcript variants encoding different isoforms.
DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. MECP2 is dispensable in stem cells but essential for embryonic development. Mutations in the MECP2 gene cause most cases of Rett syndrome, a progressive neurological developmental disorder and one of the most common causes of cognitive disability in females. This history is reflected in the previous names and aliases of the gene, which include Rett syndrome and X-linked mental retardation 16 and 79. Mouse and rat both have a Mecp2 ortholog.
MECP2 reads methylated DNA, including 5mC and 5hmC marks, making it a central protein for studying how DNA methylation is interpreted.
MECP2 represses transcription through histone deacetylase and the corepressor SIN3A, providing a model for methylation-dependent gene silencing.
MECP2 gene mutations cause most cases of Rett syndrome, a progressive neurological developmental disorder, so the protein is a focus of disease studies.
MECP2 is X-linked, subject to X inactivation and essential for embryonic development, though dispensable in stem cells.
MECP2 is a nuclear chromosomal protein that binds methylated DNA, including single methyl-CpG pairs, and recognises both 5mC and 5hmC with a preference for 5mC. It mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A.
The HGNC name is methyl-CpG binding protein 2. Aliases and previous symbols include RTT, MRX16 and MRX79, reflecting links to Rett syndrome and X-linked mental retardation. Alternative splicing of the MECP2 gene results in multiple transcript variants encoding different isoforms.
MECP2 mutations cause most cases of Rett syndrome, a progressive neurological developmental disorder. Mouse and rat each have a Mecp2 ortholog. Please check the datasheet of any product for its validated reactivity.
Other methyl-CpG binding domain proteins and corepressor partners relevant to DNA methylation and transcriptional repression research.
Gene and protein annotations from HGNC, NCBI Gene and UniProt P51608; product specifications from Assay Genie datasheets.