TTC8

Tetratricopeptide repeat domain 8 (TTC8) also known as Bardet–Biedl syndrome 8 is a protein that in humans is encoded by the TTC8 gene.

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

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 identified as causal for Bardet–Biedl syndrome.

References

Further reading

External links GeneReviews/NIH/NCBI/UW entry on Bardet–Biedl Syndrome a