TTC8

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External IDsGeneCards: [1]
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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.[1]

Function

TTC8 is associated with gamma-tubulin, BBS4, and PCM1 in the centrosome.[1] PCM1 in turn is involved in centriolar replication during ciliogenesis.[2]

TTC8 is located in the cilia of spermatids, retina, and bronchial epithelium cells.[1]

Clinical significance

Mutations in the TTC8 gene is one of 14 genes[3] identified as causal for Bardet-Biedl syndrome.[1][4]

References

  1. 1.0 1.1 1.2 1.3 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 (October 2003). "Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome". Nature. 425 (6958): 628–33. doi:10.1038/nature02030. PMID 14520415.
  2. Kubo A, Sasaki H, Yuba-Kubo A, Tsukita S, Shiina N (November 1999). "Centriolar satellites: molecular characterization, ATP-dependent movement toward centrioles and possible involvement in ciliogenesis". J. Cell Biol. 147 (5): 969–80. doi:10.1083/jcb.147.5.969. PMC 2169353. PMID 10579718.
  3. Hamosh, Ada (2012-11-02). "OMIM entry #209900 Bardet-Biedl Syndrome; BBS". Online Mendelian Inheritance in Man. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine. Retrieved 2013-09-04.
  4. Stoetzel C, Laurier V, Faivre L, Mégarbané A, Perrin-Schmitt F, Verloes A, Bonneau D, Mandel JL, Cossee M, Dollfus H (2006). "BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families". J. Hum. Genet. 51 (1): 81–4. doi:10.1007/s10038-005-0320-2. PMID 16308660.

Further reading

External links



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