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| Gene Symbol | MDC1 | ||||||||||
| Synonyms | NFBD1 | ||||||||||
| Gene Description | MDC1, mediator of DNA damage checkpoint 1, is an adaptor protein that regulates the assembly of DNA damage foci in response to DNA damage (PMID: 21326949) through the ATM-CHEK2 pathway (PMID: 32160908, PMID: 32866776). Mutations of MDC1 have been associated with poor prognosis in breast cancer patients (PMID: 28513990) and loss of Mdc1 expression has been observed in endometrial carcinoma with microsatellite instability (PMID: 31810920). | ||||||||||
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