DISEASES

Disease-gene associations mined from literature

Literature associating MBD4 and Rett syndrome

MBD4 [ENSP00000249910]

Methyl-CpG-binding domain protein 4; Mismatch-specific DNA N-glycosylase involved in DNA repair. Has thymine glycosylase activity and is specific for G:T mismatches within methylated and unmethylated CpG sites. Can also remove uracil or 5-fluorouracil in G:U mismatches. Has no lyase activity. Was first identified as methyl-CpG-binding protein.

Synonyms:  MBD4,  MBD4p,  hMBD4,  D6RBI7,  O95243 ...

Linkouts:  STRING  Pharos  UniProt  OMIM