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Gene Symbol MBD4
Synonyms MED1 | TPDS2 | UVM1
Gene Description MBD4, methyl-CpG binding domain 4, DNA glycosylase, encodes a DNA glycosylase that remove base lesions thus initiates DNA repair (PMID: 23195996), and plays a role in inhibition of mutagenesis (PMID: 12417741) and epigenetic regulation (PMID: 30049810). MBD4 mutations have been identified in colorectal (PMID: 17384679), gastric (PMID: 12430186), endometrial, and pancreatic cancers (PMID: 10545939), and germline MBD4 mutations are associated with familial uveal melanoma and increased risk of developing uveal melanoma (PMID: 32239153).
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