BBS8
MIM.608132 14q32.1
BBS8 is a tetratricopeptide repeat protein that contains 8 TPR domains (TTC8) and shows similarity to a prokaryotic domain pilF that is involved in pilus formation and twitching mobility.
Functions
BBS8, as BBS4, localizes to centrosomes and basal bodies.
BBS8 shows limited similarity to the budding yeast cdc23 protein, a member of the APC, although the biological relevance of these findings needs further evaluation.
Pathology
BBS8 is mutated in some families with Bardet-Biedl syndrome (MIM.209900).