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MDC1 - Gene Detail

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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).
NCBI Gene ID Chromosome Map Location Canonical Transcript Gene Role
9656 6 6p21.33 NM_014641 Unknown
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