|Other Names||Protein PTHB1, Bardet-Biedl syndrome 9 protein, Parathyroid hormone-responsive B1 gene protein, BBS9, PTHB1|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||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.|
|Cellular Location||Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium membrane Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite|
|Tissue Location||Widely expressed. Expressed in adult heart, skeletal muscle, lung, liver, kidney, placenta and brain, and in fetal kidney, lung, liver and brain.|
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This gene is downregulated by parathyroid hormone inosteoblastic cells, and therefore, is thought to be involved inparathyroid hormone action in bones. The exact function of thisgene has not yet been determined. Alternatively spliced transcriptvariants encoding different isoforms have been identified.
Rose, J.E., et al. Mol. Med. 16 (7-8), 247-253 (2010) :Wang, M., et al. Stat Biopharm Res 1(4):424-430(2009)Kang, H., et al. Hum. Reprod. 23(6):1457-1465(2008)Nachury, M.V., et al. Cell 129(6):1201-1213(2007)Nishimura, D.Y., et al. Am. J. Hum. Genet. 77(6):1021-1033(2005)
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