DISEASES

Disease-gene associations mined from literature

Literature associating CEP19 and Bardet-Biedl syndrome

CEP19 [ENSP00000387209]

Centrosomal protein of 19 kDa; Required for ciliation. Recruits the RABL2B GTPase to the ciliary base to initiate ciliation. After specifically capturing the activated GTP-bound RABL2B, the CEP19-RABL2B complex binds intraflagellar transport (IFT) complex B from the large pool pre-docked at the base of the cilium and thus triggers its entry into the cilia. Involved in the early steps in cilia formation by recruiting the ciliary vesicles (CVs) to the distal end of the mother centriole where they fuse to initiate cilium assembly. Involved in microtubule (MT) anchoring to the centrosomes.

Synonyms:  CEP19,  CEP19p,  hCEP19,  A8MX07,  Q96LK0 ...

Linkouts:  STRING  Pharos  UniProt