Aliases for MBD4 Gene
External Ids for MBD4 Gene
Previous GeneCards Identifiers for MBD4 Gene
The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]
GeneCards Summary for MBD4 Gene
MBD4 (Methyl-CpG Binding Domain Protein 4) is a Protein Coding gene. Diseases associated with MBD4 include 2q23.1 microdeletion syndrome and classic rett syndrome. Among its related pathways are L1CAM interactions and Regulation of Cholesterol Biosynthesis by SREBP (SREBF). GO annotations related to this gene include endodeoxyribonuclease activity and pyrimidine-specific mismatch base pair DNA N-glycosylase activity. An important paralog of this gene is MECP2.
UniProtKB/Swiss-Prot for MBD4 Gene
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.