|Other Names||Bardet-Biedl syndrome 7 protein, BBS2-like protein 1, BBS7, BBS2L1|
|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. The BBSome complex, together with the LTZL1, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. Required for proper BBSome complex assembly and its ciliary localization.|
|Cellular Location||Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite|
|Tissue Location||Isoform 2 is ubiquitously expressed. Isoform 1 is expressed in retina, lung, liver, testis, ovary, prostate, small intestine, liver, brain, heart and pancreas|
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Mutations in this gene have been observed in patients withBardet-Biedl syndrome type 7. The encoded protein may play a rolein eye, limb, cardiac and reproductive system development. Twotranscript variants encoding distinct isoforms have been identifiedfor this gene.
Bin, J., et al. Hum. Mutat. 30 (7), E737-E746 (2009) :Chung, W.K., et al. Hum. Hered. 67(3):193-205(2009)Oeffner, F., et al. Cell Motil. Cytoskeleton 65(2):143-155(2008)Yang, Z., et al. Mol. Vis. 14, 2304-2308 (2008) :Nachury, M.V., et al. Cell 129(6):1201-1213(2007)
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