|Application ||WB, FC, E|
|Calculated MW||80838 Da|
|Antigen Region||515-544 aa|
|Other Names||Bardet-Biedl syndrome 10 protein, BBS10, C12orf58|
|Target/Specificity||This BBS10 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 515-544 amino acids from the C-terminal region of human BBS10.|
|Precautions||BBS10 Antibody (C-term) is for research use only and not for use in diagnostic or therapeutic procedures.|
|Function||Probable molecular chaperone. Assists the folding of proteins upon ATP hydrolysis. As part of the BBS/CCT complex may play a role in the assembly of BBSome, a complex involved in ciliogenesis regulating transports vesicles to the cilia. Involved in adipogenic differentiation.|
|Cellular Location||Cell projection, cilium. Note=Located within the basal body of the primary cilium of differentiating preadipocytes|
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BBS10 is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by progressive retinal degeneration, obesity, polydactyly, renal malformation and mental retardation. The proteins encoded by BBS gene family members are structurally diverse and the similar phenotypes exhibited by mutations in BBS gene family members is likely due to their shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene is likely not a ciliary protein but rather has distant sequence homology to type II chaperonins. As a molecular chaperone, this protein may affect the folding or stability of other ciliary or basal body proteins. Inhibition of this protein's expression impairs ciliogenesis in preadipocytes.
Marion, V., et al. Proc. Natl. Acad. Sci. U.S.A. 106(6):1820-1825(2009)
Gerth, C., et al. Vision Res. 48(3):392-399(2008)
White, D.R., et al. Eur. J. Hum. Genet. 15(2):173-178(2007)
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