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2 Shaker Rd Suites
B001/B101
Shirley, MA 01464
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Floor 6, Suite 620
20700 44th Avenue W
Lynnwood, WA 98036
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Tel: +1 (206) 374-1102
Fax: +1 (206) 577-4565
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BBS9
Bardet-Biedl Syndrome 9
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.
| Gene Name: | Bardet-Biedl Syndrome 9 |
| Synonyms: | BBS9, Bardet-Biedl syndrome 9, B1, C18, D1, Protein PTHB1, PTHB1 |
| Target Sequences: | NM_014451 NP_055266.2 Q3SYG4 |
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