The mecp2 gene encodes a methyl-cpg binding protein that functions as a transcriptional repressor. The protein is localized to the nucleus where it binds methylated DNA, facilitating chromatin condensa...[+]

The mecp2 gene encodes a methyl-cpg binding protein that functions as a transcriptional repressor. The protein is localized to the nucleus where it binds methylated DNA, facilitating chromatin condensation and gene silencing. It is involved in neuronal development and function within the brain, spinal cord, and eye. [-]

             syndromic X-linked intellectual disability Lubs type
             X-linked intellectual disability-psychosis-macroorchidism syndrome
             Rett syndrome
             Angelman syndrome
             severe congenital encephalopathy due to MECP2 mutation

          AUTISM, SUSCEPTIBILITY TO, X-LINKED 3; AUTSX3
          INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 13; MRXS13
          RETT SYNDROME; RTT
          ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
          INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE; MRXSL

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD