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
CKB BOOST
