TTC8

{{Short description|Protein-coding gene in the species Homo sapiens}}

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Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet–Biedl syndrome 8 is a protein that in humans is encoded by the TTC8 gene.{{cite journal | vauthors = Ansley SJ, Badano JL, Blacque OE, Hill J, Hoskins BE, Leitch CC, Kim JC, Ross AJ, Eichers ER, Teslovich TM, Mah AK, Johnsen RC, Cavender JC, Lewis RA, Leroux MR, Beales PL, Katsanis N | title = Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome | journal = Nature | volume = 425 | issue = 6958 | pages = 628–33 |date=October 2003 | pmid = 14520415 | doi = 10.1038/nature02030 | bibcode = 2003Natur.425..628A | s2cid = 4310157 }}

[[Functional magnetic resonance imaging|Function]]

TTC8 is associated with gamma-tubulin, BBS4, and PCM1 in the centrosome. PCM1 in turn is involved in centriolar replication during ciliogenesis.{{cite journal | vauthors = Kubo A, Sasaki H, Yuba-Kubo A, Tsukita S, Shiina N | title = Centriolar satellites: molecular characterization, ATP-dependent movement toward centrioles and possible involvement in ciliogenesis | journal = J. Cell Biol. | volume = 147 | issue = 5 | pages = 969–80 |date=November 1999 | pmid = 10579718 | pmc = 2169353 | doi = 10.1083/jcb.147.5.969 }}

TTC8 is located in the cilia of spermatids, retina, and bronchial epithelium cells.

Clinical significance

Mutations in the TTC8 gene is one of 14 genes

{{cite web |last=Hamosh|first=Ada |title=OMIM entry #209900 Bardet-Biedl Syndrome; BBS|url=http://omim.org/entry/209900 |date=2012-11-02 |work=Online Mendelian Inheritance in Man |publisher=McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine |access-date=2013-09-04}}

identified as causal for Bardet–Biedl syndrome.{{cite journal | vauthors = Stoetzel C, Laurier V, Faivre L, Mégarbané A, Perrin-Schmitt F, Verloes A, Bonneau D, Mandel JL, Cossee M, Dollfus H | title = BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families | journal = J. Hum. Genet. | volume = 51 | issue = 1 | pages = 81–4 | year = 2006 | pmid = 16308660 | doi = 10.1007/s10038-005-0320-2 | doi-access = free }}

References

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Further reading

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  • {{cite journal |vauthors=Nachury MV, Loktev AV, Zhang Q, et al |title=A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis. |journal=Cell |volume=129 |issue= 6 |pages= 1201–13 |year= 2007 |pmid= 17574030 |doi= 10.1016/j.cell.2007.03.053 |doi-access= free }}
  • {{cite journal |vauthors=Chung WK, Patki A, Matsuoka N, et al |title=Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations. |journal=Hum. Hered. |volume=67 |issue= 3 |pages= 193–205 |year= 2009 |pmid= 19077438 |pmc=2715950 |doi= 10.1159/000181158 }}
  • {{cite journal |vauthors=Gerhard DS, Wagner L, Feingold EA, et al |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |pmc=528928 |doi= 10.1101/gr.2596504 }}
  • {{cite journal |vauthors=Ota T, Suzuki Y, Nishikawa T, et al |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285 |doi-access= free }}
  • {{cite journal |vauthors=Riazuddin SA, Iqbal M, Wang Y, et al |title=A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. |journal=Am. J. Hum. Genet. |volume=86 |issue= 5 |pages= 805–12 |year= 2010 |pmid= 20451172 |pmc=2869005 |doi= 10.1016/j.ajhg.2010.04.001 }}
  • {{cite journal |vauthors=Strausberg RL, Feingold EA, Grouse LH, etal |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2002 |pmid= 12477932 |pmc=139241 |doi= 10.1073/pnas.242603899 |bibcode=2002PNAS...9916899M |doi-access=free }}
  • {{cite journal |vauthors=Bin J, Madhavan J, Ferrini W, et al |title=BBS7 and TTC8 (BBS8) mutations play a minor role in the mutational load of Bardet-Biedl syndrome in a multiethnic population. |journal=Hum. Mutat. |volume=30 |issue= 7 |pages= E737–46 |year= 2009 |pmid= 19402160 |doi= 10.1002/humu.21040 |doi-access= |s2cid=11446097 }}

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