Gene Symbol: TTC8
Description: tetratricopeptide repeat domain 8
Alias: BBS8, RP51, tetratricopeptide repeat protein 8, Bardet-Biedl syndrome type 8, TPR repeat protein 8
Species: human
Products:     TTC8

Top Publications

  1. May Simera H, Kai M, Hernandez V, Osborn D, Tada M, Beales P. Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish. Dev Biol. 2010;345:215-25 pubmed publisher
    ..Here we show that Bbs8, a ciliary/basal body protein important for intraciliary/flagellar transport and the core PCP protein Vangl2 ..
  2. Nachury M, Loktev A, Zhang Q, Westlake C, Peranen J, Merdes A, et al. A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. Cell. 2007;129:1201-13 pubmed
    ..Conversely, preventing Rab8(GTP) production blocks ciliation in cells and yields characteristic BBS phenotypes in zebrafish. Our data reveal that BBS may be caused by defects in vesicular transport to the cilium. ..
  3. Shahi R, De Brakeleer S, Caljon B, Pauwels I, Bonduelle M, Joris S, et al. Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families. BMC Cancer. 2019;19:313 pubmed publisher
    ..with familial cancer syndromes (ABCC11, BBS10, CD96, CYP1A1, DHCR7, DNAH11, ESCO2, FLT4, HPS6, MYH8, NME8 and TTC8). Exome-wide, only a few genes appeared to be enriched for PDAVs in the familial BC patients compared to controls...
  4. Hernandez Hernandez V, Pravincumar P, Diaz Font A, May Simera H, Jenkins D, Knight M, et al. Bardet-Biedl syndrome proteins control the cilia length through regulation of actin polymerization. Hum Mol Genet. 2013;22:3858-68 pubmed publisher
    ..Furthermore, we observed over-abundant focal adhesions (FAs) in Bbs4-, Bbs6- and Bbs8-deficient cells...
  5. Ravesh Z, Dianatpour M, Fardaei M, Taghdiri M, Hashemi Gorji F, Yassaee V, et al. Advanced molecular approaches pave the road to a clear-cut diagnosis of hereditary retinal dystrophies. Mol Vis. 2018;24:679-689 pubmed
    ..586_589delTTTG (p.F196Sfs*56) in the TTC8 gene of family A, the novel homozygous missense mutation c.2389T>C (p...
  6. Katoh Y, Nozaki S, Hartanto D, Miyano R, Nakayama K. Architectures of multisubunit complexes revealed by a visible immunoprecipitation assay using fluorescent fusion proteins. J Cell Sci. 2015;128:2351-62 pubmed publisher
    ..and showed that BBS18 (also known as BBIP1 and BBIP10) serves as a linker between BBS4 and BBS8 (also known as TTC8). We also applied the VIP assay to mapping subunit interactions of the exocyst tethering complex...
  7. Murphy D, Singh R, Kolandaivelu S, Ramamurthy V, Stoilov P. Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa. Mol Cell Biol. 2015;35:1860-70 pubmed publisher
    ..alternative splicing is responsible for confining the phenotype of the A-to-G substitution in the 3' splice site of BBS8 exon 2A (IVS1-2A>G mutation) in the BBS8 gene to photoreceptor cells...
  8. Broekhuis J, Verhey K, Jansen G. Regulation of cilium length and intraflagellar transport by the RCK-kinases ICK and MOK in renal epithelial cells. PLoS ONE. 2014;9:e108470 pubmed publisher
    ..of kinesin-II, the main anterograde IFT motor, complex A protein IFT43, complex B protein IFT20, BBSome protein BBS8 and homodimeric kinesin KIF17, whose function in mammalian cilia is unclear...
  9. Zhang Q, Yu D, Seo S, Stone E, Sheffield V. Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome. J Biol Chem. 2012;287:20625-35 pubmed publisher
    ..BBS1, BBS5, BBS8, and finally BBS4 are added to the BBSome core to form the complete BBSome.

More Information


  1. May Simera H, Petralia R, Montcouquiol M, Wang Y, Szarama K, Liu Y, et al. Ciliary proteins Bbs8 and Ift20 promote planar cell polarity in the cochlea. Development. 2015;142:555-66 pubmed publisher
    ..Results indicated notable PCP defects, including mis-oriented hair cell stereociliary bundles, in Bbs8 and Ift20 single mutants that are more severe than in other cilia gene knockouts...
  2. Hartley S, Mullikin J, Klein D, Park M, Coon S. Alternative Isoform Analysis of Ttc8 Expression in the Rat Pineal Gland Using a Multi-Platform Sequencing Approach Reveals Neural Regulation. PLoS ONE. 2016;11:e0163590 pubmed publisher
    ..pineal gland, and then used two other complementary experimental platforms to further study and characterize the Ttc8 gene, which is involved in Bardet-Biedl syndrome and non-syndromic retinitis pigmentosa...
  3. Downs L, Aguirre G. FAM161A and TTC8 are Differentially Expressed in Non-Allelelic Early Onset Retinal Degeneration. Adv Exp Med Biol. 2016;854:201-7 pubmed publisher
    Ciliary genes FAM161A and TTC8 have been implicated in retinal degeneration (RD) in humans and in dogs...
  4. Ece Solmaz A, Onay H, AtIk T, Aykut A, Cerrah Gunes M, Ozalp Yuregir O, et al. Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes. Eur J Med Genet. 2015;58:689-94 pubmed publisher
    ..generation sequencing panel which included 17 known BBS causing genes (BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12, MKS1, NPHP6, WDPCP, SDCCAG8, NPHP1)...
  5. Barbelanne M, Hossain D, Chan D, Peränen J, Tsang W. Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery. Hum Mol Genet. 2015;24:2185-200 pubmed publisher
    ..of Cep290, another transition zone protein that directly binds to NPHP5, causes additional dissociation of BBS8 and loss of ciliary BBS8...
  6. Su X, Driscoll K, Yao G, Raed A, Wu M, Beales P, et al. Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein. Hum Mol Genet. 2014;23:5441-51 pubmed publisher
    ..interacts with all subunits of the BBSome, the ADPKD protein polycystin-1 (PC1) interacts with BBS1, BBS4, BBS5 and BBS8, four of the seven components of the BBSome...
  7. Ullah A, Umair M, Yousaf M, Khan S, Nazim Ud Din M, Shah K, et al. Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families. Mol Vis. 2017;23:482-494 pubmed
    ..Linkage in two families (A and B) was established to BBS7 on chromosome 4q27, in family C to BBS8 on chromosome 14q32.1, and in family D to BBS10 on chromosome 12q21.2...
  8. Chamling X, Seo S, Searby C, Kim G, Slusarski D, Sheffield V. The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome. PLoS Genet. 2014;10:e1004083 pubmed publisher
    ..These findings associate AZI1 with the BBS pathway. Our findings provide further insight into the regulation of BBSome ciliary trafficking and identify AZI1 as a novel BBS candidate gene. ..
  9. Zhang Q, Nishimura D, Seo S, Vogel T, Morgan D, Searby C, et al. Bardet-Biedl syndrome 3 (Bbs3) knockout mouse model reveals common BBS-associated phenotypes and Bbs3 unique phenotypes. Proc Natl Acad Sci U S A. 2011;108:20678-83 pubmed publisher
    ..Differences between BBS mouse models suggest nonoverlapping functions to individual BBS protein. ..
  10. Riazuddin S, Iqbal M, Wang Y, Masuda T, Chen Y, Bowne S, et al. A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Am J Hum Genet. 2010;86:805-12 pubmed publisher
    ..Here we show that an in-frame splice mutation in BBS8, one of the genes involved in pleiotropic Bardet-Biedl syndrome (BBS), is sufficient to cause nonsyndromic ..
  11. Hsu Y, Garrison J, Kim G, Schmitz A, Searby C, Zhang Q, et al. BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment. PLoS Genet. 2017;13:e1007057 pubmed publisher
    ..To gain insight into the mechanisms of retinal degeneration in BBS, we developed a congenital knockout mouse of Bbs8, as well as conditional mouse models in which function of the BBSome (a protein complex that mediates ciliary ..
  12. Kamiya A, Tan P, Kubo K, Engelhard C, Ishizuka K, Kubo A, et al. Recruitment of PCM1 to the centrosome by the cooperative action of DISC1 and BBS4: a candidate for psychiatric illnesses. Arch Gen Psychiatry. 2008;65:996-1006 pubmed publisher
    ..Our data further support for the role of centrosomal proteins in cortical development and suggest that perturbation of centrosomal function contributes to the development of mental diseases, including SZ. ..
  13. Ansley S, Badano J, Blacque O, Hill J, Hoskins B, Leitch C, et al. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Nature. 2003;425:628-33 pubmed
    ..We have cloned a new BBS gene, BBS8, which encodes a protein with a prokaryotic domain, pilF, involved in pilus formation and twitching mobility...
  14. Gascue C, Tan P, Cardenas Rodriguez M, Libisch G, Fernández Calero T, Liu Y, et al. Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation. J Cell Sci. 2012;125:362-75 pubmed publisher
    ..Our data indicate a hitherto unappreciated, direct role for the BBS proteins in transcriptional regulation and potentially expand the mechanistic spectrum that underpins the development of ciliary phenotypes in patients. ..
  15. Bin J, Madhavan J, Ferrini W, Mok C, Billingsley G, Heon E. BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. Hum Mutat. 2009;30:E737-46 pubmed publisher
    ..To date, mutations in BBS7 and TTC8 (BBS8) were reported in 4.2% and 2.8% of BBS families respectively...
  16. Dilan T, Singh R, Saravanan T, Moye A, Goldberg A, Stoilov P, et al. Bardet-Biedl syndrome-8 (BBS8) protein is crucial for the development of outer segments in photoreceptor neurons. Hum Mol Genet. 2018;27:283-294 pubmed publisher
    ..The products of eight of these BBS genes form a stable octameric complex termed the BBSome. Mutations in BBS8, a component of the BBSome, cause early vision loss, but the role of BBS8 in supporting vision is not known...
  17. Badano J, Leitch C, Ansley S, May Simera H, Lawson S, Lewis R, et al. Dissection of epistasis in oligogenic Bardet-Biedl syndrome. Nature. 2006;439:326-30 pubmed
    ..Our data demonstrate how the combined use of biochemical, genetic and in vivo tools can facilitate the dissection of epistatic phenomena, and enhance our appreciation of the genetic basis of phenotypic variability. ..