Rett syndrome gene

URI: https://gptkb.org/entity/Rett_syndrome_gene
GPTKB entity
Statements (18)
Predicate Object
gptkbp:instanceOf gptkb:gene
gptkbp:alternativeName gptkb:methyl_CpG_binding_protein_2
gptkb:MECP2
gptkbp:associatedWith gptkb:Rett_syndrome
gptkbp:discoveredBy gptkb:Huda_Zoghbi
gptkbp:encodes gptkb:methyl_CpG_binding_protein_2
gptkbp:Entrez_Gene_ID 4204
gptkbp:expressedIn brain
gptkbp:HGNC_ID 6990
https://www.w3.org/2000/01/rdf-schema#label Rett syndrome gene
gptkbp:inheritance X-linked dominant
gptkbp:locatedOnChromosome gptkb:Xq28
gptkbp:mutationAssociatedWith gptkb:Rett_syndrome
gptkbp:OMIM 300005
gptkbp:symbol gptkb:MECP2
gptkbp:UniProtID gptkb:P51608
gptkbp:bfsParent gptkb:MECP2
gptkbp:bfsLayer 7