DISEASES

Disease-gene associations mined from literature

Literature associating MDC1 and Nijmegen breakage syndrome

MDC1 [ENSP00000365588]

Mediator of DNA damage checkpoint protein 1; Required for checkpoint mediated cell cycle arrest in response to DNA damage within both the S phase and G2/M phases of the cell cycle. May serve as a scaffold for the recruitment of DNA repair and signal transduction proteins to discrete foci of DNA damage marked by 'Ser-139' phosphorylation of histone H2AFX. Also required for downstream events subsequent to the recruitment of these proteins. These include phosphorylation and activation of the ATM, CHEK1 and CHEK2 kinases, and stabilization of TP53 and apoptosis. ATM and CHEK2 may also be activated independently by a parallel pathway mediated by TP53BP1.

Synonyms:  MDC1,  MDC1p,  hMDC1,  KIAA0170,  NFBD1 ...

Linkouts:  STRING  Pharos