MECP2 Antibody – Rabbit Polyclonal

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 mental retardation in females. [provided by RefSeq, Jul 2009]

MECP2: 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. Interacts with FNBP3. Interacts with CDKL5. Present in all adult somatic tissues tested. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Transcription, coactivator/corepressor

Chromosomal Location of Human Ortholog: Xq28

Cellular Component: nucleoplasm; heterochromatin; extracellular space; nucleus; cytosol

Molecular Function: mRNA binding; protein domain specific binding; protein binding; siRNA binding; methyl-CpG binding; DNA binding; double-stranded methylated DNA binding; protein N-terminus binding; chromatin binding; transcription factor binding; transcription factor activity; transcription corepressor activity

Biological Process: catecholamine secretion; genetic imprinting; startle response; behavioral fear response; adult locomotory behavior; positive regulation of transcription, DNA-dependent; chromatin silencing; pathogenesis; neurological control of breathing; proprioception; negative regulation of transcription from RNA polymerase II promoter; sensory perception of pain; neuron maturation; negative regulation of histone methylation; phosphatidylcholine metabolic process; post-embryonic development; negative regulation of histone acetylation; protein localization; synaptogenesis; positive regulation of cell proliferation; dendrite development; cerebellum development; visual learning; negative regulation of neuron apoptosis; histone acetylation; mitochondrial electron transport, ubiquinol to cytochrome c; transcription, DNA-dependent; ventricular system development; glutamine metabolic process; respiratory gaseous exchange; social behavior; cardiolipin metabolic process; histone methylation; glucocorticoid metabolic process; positive regulation of synaptogenesis; regulation of systemic arterial blood pressure by neurological process; long-term memory; inositol metabolic process; response to hypoxia; regulation of excitatory postsynaptic membrane potential; negative regulation of transcription, DNA-dependent

Disease: Rett Syndrome; Mental Retardation, X-linked, Syndromic 13; Autism, Susceptibility To, X-linked 3; Lubs X-linked Mental Retardation Syndrome; Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations; Angelman Syndrome