Products

Western Blot (Transfected lysate)

Entrez GeneID

GeneBank Accession#

Protein Accession#

Gene Name

MBD4

Gene Alias

MED1

Gene Description

methyl-CpG binding domain protein 4

Omim ID

Gene Ontology

Gene Summary

DNA methylation is the major modification of eukaryotic genomes and plays an essential role in mammalian development. Human proteins MECP2, MBD1, MBD2, MBD3, and MBD4 comprise a family of nuclear proteins related by the presence in each of a methyl-CpG binding domain (MBD). Each of these proteins, with the exception of MBD3, is capable of binding specifically to methylated DNA. MBD4 may function to mediate the biological consequences of the methylation signal. In addition, MBD4 has protein sequence similarity to bacterial DNA repair enzymes and thus may have some function in DNA repair. Further, MBD4 gene mutations are detected in tumors with primary microsatellite-instability (MSI), a form of genomic instability associated with defective DNA mismatch repair, and MBD4 gene meets 4 of 5 criteria of a bona fide MIS target gene. [provided by RefSeq

Other Designations

3,N(4)-ethenocytosine glycosylase|G/5-fluorouracil mismatch glycosylase with biphasic kinetics|G/T mismatch glycosylase|G/U mismatch glycosylase|putative methyl-CpG binding protein