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Gene Review

TTC8  -  tetratricopeptide repeat domain 8

Homo sapiens

Synonyms: BBS8, Bardet-Biedl syndrome 8 protein, RP51, TPR repeat protein 8, Tetratricopeptide repeat protein 8
 
 
 
 
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High impact information on TTC8

  • We have also found that BBS8 localizes specifically to ciliated structures, such as the connecting cilium of the retina and columnar epithelial cells in the lung [1].
  • In cells, BBS8 localizes to centrosomes and basal bodies and interacts with PCM1, a protein probably involved in ciliogenesis [1].

References

  1. Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome. Ansley, S.J., Badano, J.L., Blacque, O.E., Hill, J., Hoskins, B.E., Leitch, C.C., Kim, J.C., Ross, A.J., Eichers, E.R., Teslovich, T.M., Mah, A.K., Johnsen, R.C., Cavender, J.C., Lewis, R.A., Leroux, M.R., Beales, P.L., Katsanis, N. Nature (2003) [Pubmed]
 
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