Gene Detail
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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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