40
Mecp2 is a gene that provides instructions for making a protein that plays an important role in the nervous system. The Mecp2 protein helps control the activity of many other genes, including those involved in brain development. Mutations in the Mecp2 gene cause Rett syndrome, a rare neurological disorder that affects mostly girls and leads to severe mental retardation and problems with movement, breathing, and heart function.
Mutations in the Mecp2 gene have also been linked to milder forms of intellectual disability and autism spectrum disorder. Researchers are working to develop treatments for these conditions by studying how mutations in the Mecp2 gene affect brain development and function.