TTC8


Tetratricopeptide repeat domain 8 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.