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).
The MeCP2 helps regulate gene activity (expression) by modifying chromatin, the complex of DNA and protein that packages DNA into chromosomes. The MeCP2 protein is present in cells throughout the body, although it is particularly abundant in brain cells.In the brain, the MeCP2 protein likely plays a role in maintaining connections (synapses) between neurons, where cell-to-cell communication occurs. The alternative splicing of proteins is critical for normal communication between neurons and may also be necessary for the function of other types of brain cells.
Trans-2-Enoyl-CoA Reductase Mitochondrial (MECR) belongs to the zinc-containing alcohol dehydrogenase family. MECR localizes to the mitochondrion. It is highly expressed in skeletal and heart muscle and expressed at lower levels in the placenta, liver, kidney and pancreas, with weakly or no expression in the lung. MECR exists as a homodimer, which catalyzes the reduction of trans-2-enoyl-CoA to acyl-CoA with chain length from C6 to C16 in an NADPH-dependent manner with preference to medium chain length substrate. MECR may take part in the mitochondrial synthesis of fatty acids.
MEF2C (Myocyte enhancer factor-2C) is a transcriptional activator that is a member of the MEF2 subfamily, MADS (MCM1, Agamous, Deficiens, Serum response factor) gene family of proteins. Although its predicted MW is 51 kDa, it runs anomalously at 57 kDa in SDS-PAGE. It is expressed in B cells, plus postmitotic neurons and skeletal muscle cells that are undergoing differentiation.
This gene encodes a member of the multiple epidermal growth factor-like domains protein family. The encoded protein plays a role in cell adhesion, motility and proliferation, and is a critical mediator of apoptotic cell phagocytosis as well as amyloid-beta peptide uptake in the brain. Expression of this gene may be associated with schizophrenia, and mutations in this gene are a cause of early-onset myopathy, areflexia, respiratory distress, and dysphagia (EMARDD) as well as congenital myopathy with minicores. Alternatively spliced transcript variants have been observed for this gene.
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