Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

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).


Additional content available in CKB BOOST