DISEASES

Disease-gene associations mined from literature

Literature associating CLSPN and Seckel syndrome

CLSPN [ENSP00000312995]

Claspin; Required for checkpoint mediated cell cycle arrest in response to inhibition of DNA replication or to DNA damage induced by both ionizing and UV irradiation. Adapter protein which binds to BRCA1 and the checkpoint kinase CHEK1 and facilitates the ATR-dependent phosphorylation of both proteins. Can also bind specifically to branched DNA structures and may associate with S-phase chromatin following formation of the pre-replication complex (pre-RC). This may indicate a role for this protein as a sensor which monitors the integrity of DNA replication forks. ECO:0000269|PubMed:15096610, ECO:0000269|PubMed:15190204,

Synonyms:  CLSPN,  E7ESG2,  Q9HAW4,  E7ESG2p,  hE7ESG2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM