SPARQL | HTML5 RDFa and Microdata document
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http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://vocabularies.wikipathways.org/wp#Pathway
http://www.w3.org/2004/02/skos/core#Collection
http://xmlns.com/foaf/0.1/page
http://www.wikipathways.org/instance/WP3584_r137972
http://purl.org/dc/elements/1.1/identifier
https://identifiers.org/wikipathways/WP3584
http://purl.org/dc/elements/1.1/source http://purl.org/dc/elements/1.1/title
MECP2 and associated Rett syndrome
http://purl.org/dc/terms/description
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 revision in the paper is 90609.
Proteins on this pathway have targeted assays available via the [CPTAC Assay Portal](https://assays.cancer.gov/available_assays?wp_id=WP3584).
http://purl.org/dc/terms/identifier http://purl.org/dc/terms/references
https://identifiers.org/pubmed/24615633
http://purl.org/spar/cito/cites
https://identifiers.org/pubmed/21423409
https://identifiers.org/pubmed/18511691
https://identifiers.org/pubmed/16251272
https://identifiers.org/pubmed/21070191
https://identifiers.org/pubmed/22334035
https://identifiers.org/pubmed/22615490
https://identifiers.org/pubmed/22141737
https://identifiers.org/pubmed/23770565
https://identifiers.org/pubmed/16613900
https://identifiers.org/pubmed/23431031
https://identifiers.org/pubmed/17573714
https://identifiers.org/pubmed/24916645
https://identifiers.org/pubmed/24069510
https://identifiers.org/pubmed/10490655
https://identifiers.org/pubmed/24615633
https://identifiers.org/pubmed/23611944
https://identifiers.org/pubmed/23960241
https://identifiers.org/pubmed/25458568
https://identifiers.org/pubmed/18203756
https://identifiers.org/pubmed/20392956
https://identifiers.org/pubmed/19157421
https://identifiers.org/pubmed/18820302
https://identifiers.org/pubmed/27352031
https://identifiers.org/pubmed/20010955
https://identifiers.org/pubmed/24662006
https://identifiers.org/pubmed/20697302
https://identifiers.org/pubmed/20716963
https://identifiers.org/pubmed/21212100
https://identifiers.org/pubmed/20400852
https://identifiers.org/pubmed/20368621
https://identifiers.org/pubmed/28522374
https://identifiers.org/pubmed/20452318
http://vocabularies.wikipathways.org/wp#cellTypeOntologyTag
http://purl.obolibrary.org/obo/CL_0000129
http://purl.obolibrary.org/obo/CL_0000127
http://purl.obolibrary.org/obo/CL_0000128
http://vocabularies.wikipathways.org/wp#diseaseOntologyTag
http://purl.obolibrary.org/obo/DOID_1206
http://vocabularies.wikipathways.org/wp#isAbout
http://rdf.wikipathways.org/Pathway/WP3584_r137972
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http://purl.obolibrary.org/obo/DOID_1206
http://vocabularies.wikipathways.org/wp#Curation:AnalysisCollection
http://vocabularies.wikipathways.org/wp#Curation:ONTOX
http://purl.obolibrary.org/obo/CL_0000129
http://purl.obolibrary.org/obo/CL_0000127
http://vocabularies.wikipathways.org/wp#Curation:Diseases
http://purl.obolibrary.org/obo/PW_0000013
http://purl.obolibrary.org/obo/CL_0000128
http://vocabularies.wikipathways.org/wp#Curation:RareDiseases
http://vocabularies.wikipathways.org/wp#organism
http://purl.obolibrary.org/obo/NCBITaxon_9606
http://vocabularies.wikipathways.org/wp#organismName http://vocabularies.wikipathways.org/wp#pathwayOntologyTag
http://purl.obolibrary.org/obo/PW_0000013
http://xmlns.com/foaf/0.1/img
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