DISEASES

Disease-gene associations mined from literature

Literature associating CEP164 and Joubert syndrome 1

CEP164 [ENSP00000278935]

Centrosomal protein of 164 kDa; Plays a role in microtubule organization and/or maintenance for the formation of primary cilia (PC), a microtubule-based structure that protrudes from the surface of epithelial cells. Plays a critical role in G2/M checkpoint and nuclear divisions. A key player in the DNA damage-activated ATR/ATM signaling cascade since it is required for the proper phosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a critical role in chromosome segregation, acting as a mediator required for the maintenance of genomic stability through modulation of MDC1, RPA and CHEK1.

Synonyms:  CEP164,  CEP164p,  hCEP164,  CEP164-001,  CEP164-002 ...

Linkouts:  STRING  Pharos  UniProt  OMIM