MECP2 gene

The protein MeCP2 protein is a product of the MECP2 gene.  While its function has not properly understood, it appears to be involved in the genetic modification of chromatin.  Although found throughout the body, the protein regulates genes related to brain function as it has been shown to be crucial in the functioning of neurons and is plentiful in those that have attained maturity.  It may also have a role in the maintenance of synapses as well as with regard to messenger RNA (mRNA), DNA methylation, and the repression of a number of other genes (thus preventing the production of unnecessary and potentially damaging proteins).  Located on the long arm of the X chromosome, mutations in the MECP2 gene give rise to Rett’s syndrome that consequently is almost only found in females [the gene itself is referred to as methyl CpG binding protein (Rett’s syndrome)].  In fact, this syndrome is associated with more than 300 mutations in this gene.  Also associated with such mutations are autism, childhood-onset schizophrenia, and signs and symptoms similar to Angelman’s syndrome.  Interestingly, this mutational spectrum has not been found in Chinese populations to date. 

See Angelman’s syndrome, Chromatin, Chromosome, DNA (deoxyribonucleic acid), Gene, Methylation, Mutation (biology), Neuron, Proteins, Rett’s syndrome, RNA (ribonucleic acid), Synapse