MBD4
Description
The MBD4 (methyl-CpG binding domain 4, DNA glycosylase) is a protein-coding gene located on chromosome 3.
MBD4 is a human protein encoded by the MBD4 gene. It contains two main domains: a methyl-CpG-binding domain (amino acids 82–147) and a C-terminal DNA glycosylase domain (amino acids 426–580). These domains are separated by a region that interacts with UHRF1 (an E3 ubiquitin ligase) and USP7 (a de-ubiquinating enzyme). MBD4 is part of a family of nuclear proteins that bind to methylated DNA, potentially mediating the biological effects of DNA methylation. Its sequence similarity to bacterial DNA repair enzymes suggests a role in DNA repair. Mutations in the MBD4 gene have been linked to tumors with microsatellite instability, a form of genomic instability associated with defective DNA mismatch repair. DNA methylation is a crucial modification in eukaryotic genomes and plays a key role in mammalian development.
MBD4 is also known as MED1, TPDS2, UVM1.
