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Tetratricopeptide repeat domain 8

This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is involved in the formation of cilia. Alternate transcriptional splice variants have been characterized. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: BBS, BBS4, BBS7, BBS1, Kms
Papers on BBS8
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.
Ozkinay et al., İzmir, Turkey. In Eur J Med Genet, Dec 2015
In this study, 15 patients with clinically diagnosed BBS were investigated using a next 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).
FAM161A and TTC8 are Differentially Expressed in Non-Allelelic Early Onset Retinal Degeneration.
Aguirre et al., Philadelphia, United States. In Adv Exp Med Biol, Dec 2015
Ciliary genes FAM161A and TTC8 have been implicated in retinal degeneration (RD) in humans and in dogs.
Confirmation of TTC8 as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51).
Vanita et al., Amritsar, India. In Clin Genet, Aug 2015
TTC8 is mutated in Bardet-Biedl syndrome 8 (BBS8), and once reported previously in a family with nonsyndromic RP.
Architectures of multisubunit complexes revealed by a visible immunoprecipitation assay using fluorescent fusion proteins.
Nakayama et al., Kyoto, Japan. In J Cell Sci, Jul 2015
We also demonstrated the assembly sequence of the BBSome around the centrosome, and showed that BBS18 (also known as BBIP1 and BBIP10) serves as a linker between BBS4 and BBS8 (also known as TTC8).
Alternative Splicing Shapes the Phenotype of a Mutation in BBS8 To Cause Nonsyndromic Retinitis Pigmentosa.
Stoilov et al., Morgantown, United States. In Mol Cell Biol, May 2015
Here, we show that cell-type-specific 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.
Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.
Tsang et al., Montréal, Canada. In Hum Mol Genet, May 2015
Depletion of Cep290, another transition zone protein that directly binds to NPHP5, causes additional dissociation of BBS8 and loss of ciliary BBS8.
Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.
Zhou et al., Boston, United States. In Hum Mol Genet, 2014
Here, we demonstrate that, unlike the seven-span somatostatin receptor 3 or the leptin receptor that 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.
Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.
Chaabouni et al., Tunisia. In Clin Genet, 2014
Described mutations included c.436C>T (p.R146*) and c.1473+4A>G in BBS1, c.565C> (p.R189*) in BBS2, deletion of exons 4-6 in BBS4, c.149T>G (p.L50R) in BBS5, and c.459+1G>A in BBS8; most frequent mutations were described in BBS1 (4/11, 37%) and BBS2 (2/11, 18%) genes.
A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever.
Mellersh et al., Newmarket, United Kingdom. In Canine Genet Epidemiol, 2013
Two of the genes (TTC8 and SPATA7) have been associated with Retinitis Pigmentosa (RP) in humans.
Regulation of cilium length and intraflagellar transport by the RCK-kinases ICK and MOK in renal epithelial cells.
Jansen et al., Rotterdam, Netherlands. In Plos One, 2013
To analyze the effects of ICK and MOK on the IFT machinery, we set up live imaging of five fluorescently tagged IFT proteins: KIF3B, a subunit 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.
Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish.
Beales et al., London, United Kingdom. In Dev Biol, 2010
Bbs8, together with the planar cell polarity protein Vangl2, is required to establish left-right asymmetry in zebrafish
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.
Katsanis et al., Baltimore, United States. In Am J Hum Genet, 2010
A splice-site mutation in a retina-specific exon of TTC8 causes nonsyndromic retinitis pigmentosa.
BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population.
Héon et al., Toronto, Canada. In Hum Mutat, 2009
small role of BBS7 and TTC8 in the overall mutational load of Bardet-Biedl syndrome patients
[Update on Bardet-Biedl syndrome].
Mandel et al., Strasbourg, France. In J Fr Ophtalmol, 2005
To date, six different genes have been identified: BBS1, BBS2, BBS4, BBS6, BBS7 and BBS8.
Use of isolated populations in the study of a human obesity syndrome, the Bardet-Biedl syndrome.
Sheffield, Iowa City, United States. In Pediatr Res, 2004
The predicted BBS1, BBS2, BBS4, BBS7, and BBS8 gene products do not seem to be molecular chaperones, on the basis of a lack of sequence similarity to the chaperonin family of proteins.
Establishing a connection between cilia and Bardet-Biedl Syndrome.
Sheffield et al., Columbus, United States. In Trends Mol Med, 2004
Ansley at al. have now identified a sixth BBS gene (BBS8) and provide evidence that the BBS8 protein and other BBS proteins localize to the basal body of ciliated cells, suggesting that BBS is a ciliary dysfunction disorder.
Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome.
Katsanis et al., Baltimore, United States. In Nature, 2003
A homozygous null BBS8 mutation leads to Bardet-Biedl syndrome with randomization of left-right body axis symmetry, a known defect of the nodal cilium
Bardet-Biedl Syndrome
Beales et al., Seattle, United States. In Unknown Journal, 2003
At least 19 genes are associated with BBS: BBS1, BBS2, ARL6 (BBS3), BBS4, BBS5, MKKS (BBS6), BBS7, TTC8 (BBS8), BBS9, BBS10, TRIM32 (BBS11), BBS12, MKS1 (BBS13), CEP290 (BBS14), WDPCP (BBS15), SDCCAG8 (BBS16), LZTFL1 (BBS17), BBIP1 (BBS18), and IFT27 (BBS19).
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