DISEASES

Disease-gene associations mined from literature

Literature associating MECP2 and early infantile epileptic encephalopathy 9

MECP2 [ENSP00000395535]

Methyl CpG binding protein 2; Chromosomal protein that binds to methylated DNA. It can bind specifically to a single methyl-CpG pair. It is not influenced by sequences flanking the methyl-CpGs. Mediates transcriptional repression through interaction with histone deacetylase and the corepressor SIN3A. Binds both 5-methylcytosine (5mC) and 5-hydroxymethylcytosine (5hmC)-containing DNA, with a preference for 5-methylcytosine (5mC).

Synonyms:  MECP2,  MECP2p,  hMECP2,  B5MCB4,  C6KG44 ...

Linkouts:  STRING  Pharos  UniProt  OMIM