|Application ||WB, E|
|Other Accession||Q8K2G4, NP_789794.1, NP_060660.2|
|Calculated MW||80353 Da|
|Antigen Region||73-99 aa|
|Other Names||Bardet-Biedl syndrome 7 protein, BBS2-like protein 1, BBS7, BBS2L1|
|Target/Specificity||This BBS7 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 73-99 amino acids from the N-terminal region of human BBS7.|
|Format||Purified polyclonal antibody supplied in PBS with 0.09% (W/V) sodium azide. This antibody is purified through a protein A column, followed by peptide affinity purification.|
|Storage||Maintain refrigerated at 2-8°C for up to 2 weeks. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||BBS7 Antibody (N-term) is for research use only and 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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Provided below are standard protocols that you may find useful for product applications.
Mutations in this gene have been observed in patients with Bardet-Biedl syndrome type 7. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. Two transcript variants encoding distinct isoforms have been identified for 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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