DISEASES

Disease-gene associations mined from literature

Literature associating BBS9 and Bardet-Biedl syndrome 3

BBS9 [ENSP00000242067]

Parathyroid hormone-responsive B1 gene protein; The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable for centriolar satellite function. This ciliogenic function is mediated in part by the Rab8 GDP/GTP exchange factor, which localizes to the basal body and contacts the BBSome. Rab8(GTP) enters the primary cilium and promotes extension of the ciliary membrane. Firstly the BBSome associates with the ciliary membrane and binds to RAB3IP/Rabin8, the guanosyl exchange factor (GEF) for Rab8 and then the Rab8-GTP localizes to the cilium and promotes docking and fusion of carrier vesicles to the base of the ciliary membrane. Required for proper BBSome complex assembly and its ciliary localization.

Synonyms:  BBS9,  BBS9p,  hBBS9,  C9JJ08,  C9JRR5 ...

Linkouts:  STRING  Pharos  UniProt  OMIM