Methyl CpG Binding Protein 2 (MECP2)
RTS; AUTSX3; MRX16; MRX79; PPMX; RTT; Rett Syndrome; Mental Retardation,X-linked 16
appears to be essential for the normal function of nerve cells. The protein seems to be particularly important for mature nerve cells, where it is present in high levels. The MeCP2 protein is likely to be involved in turning off ("repressing" or "silencing") several other genes. This prevents the genes from making proteins when they are not needed. Recent work has shown that MeCP2 can also activate other genes.The MECP2 gene is located on the long (q) arm of the X chromosome in band 28 ("Xq28"), from base pair 152,808,110 to base pair 152,878,611. MECP2 is dispensible in stem cells. MECP2 gene mutations are the cause of some cases of Rett syndrome, a progressive neurologic developmental disorder and one of the most common causes of mental retardation in females.