TTC8 Antibody (N-term) Blocking Peptide
Synthetic peptide
- SPECIFICATION
- CITATIONS
- PROTOCOLS
- BACKGROUND
Primary Accession | Q8TAM2 |
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Clone Names | 110617306 |
Gene ID | 123016 |
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Other Names | Tetratricopeptide repeat protein 8, TPR repeat protein 8, Bardet-Biedl syndrome 8 protein, TTC8, BBS8 |
Format | Peptides are lyophilized in a solid powder format. Peptides can be reconstituted in solution using the appropriate buffer as needed. |
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. |
Name | TTC8 |
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Synonyms | BBS8 |
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 | Cytoplasm, cytoskeleton, microtubule organizing center, centrosome. Cell projection, cilium membrane. Cytoplasm. Cytoplasm, cytoskeleton, microtubule organizing center, centrosome, centriolar satellite. Cell projection, cilium {ECO:0000250|UniProtKB:Q8VD72} |
Tissue Location | Widely expressed. |
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Background
This gene encodes a protein that has been directly linkedto Bardet-Biedl syndrome. The primary features of this syndromeinclude retinal dystrophy, obesity, polydactyly, renalabnormalities and learning disabilities. Experimentation innon-human eukaryotes suggests that this gene is expressed inciliated cells and that it is involved in the formation of cilia.Alternate transcriptional splice variants have been characterized.
References
Riazuddin, S.A., et al. Am. J. Hum. Genet. 86(5):805-812(2010)Bin, J., et al. Hum. Mutat. 30 (7), E737-E746 (2009) :Chung, W.K., et al. Hum. Hered. 67(3):193-205(2009)Nachury, M.V., et al. Cell 129(6):1201-1213(2007)Ansley, S.J., et al. Nature 425(6958):628-633(2003)
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