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The antibody detects endogenous levels of total PTHB1 / BBS9 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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Bardet-Biedl syndrome 9 protein; Parathyroid hormone-responsive B1 gene protein; Protein PTHB1; PTH-responsive osteosarcoma B1 protein
基因别名: B1; BBS9; C18; D1; PTHB1
UniProt ID: (Human) Q3SYG4
Entrez Gene ID: (Human) 27241