WP3584 - MECP2 and associated Rett syndrome - Homo sapiens

MECP2 (methyl-CpG binding protein 2) is in many mammals an important regulator of neuronal function and development. It affects all cell types, especially neurons but also astrocytes, oligodendrocytes, and glial cells. MECP2 plays an important role in neuronal differentiation, maturation, morphology and function and influences synaptic plasticity. Mutations impairing the proper function of MECP2 are mainly associated with the Rett syndrome but may also contribute to other neurological disorders like schizophrenia, FASD (fetal alcohol syndrome), PPM-X-syndrome, autism, Prader-Will-syndrome, and Angelman-syndrome. Dependant on the cofactors MECP2 acts as an activator or repressor of transcription and micro RNA production. It affects RNA splicing and regulates chromatin structure together with HP1 and interferes in methylation of DNA (epigenetics). The expression of MECP2 itself is highly regulated by promotor elements, cis-regulatory elements, polyadenylation, promotor DNA methylation and miRNA.
Please cite this pathways as: http://www.wikipathways.org/instance/WP3584
Ehrhart et al. 2016 https://doi.org/10.1186/s13023-016-0545-5 - the pathway version in the paper is 90609.

Proteins on this pathway have targeted assays available via the [https://assays.cancer.gov/available_assays?wp_id=WP3584 CPTAC Assay Portal]