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Fig. 1 | Italian Journal of Pediatrics

Fig. 1

From: Mutation profile of BBS genes in patients with Bardet–Biedl syndrome: an Italian study

Fig. 1

Schematic representation of the cilium and intraflagellar transport. 1. transition zone; 2. basal body; 3. axoneme; 4. pericentriolar area. BBS-chaperonin complex (BBS6, BBS10, BBS12) binds and stabilizes the BBS protein to form the BBSome (BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9, BBS17, BBS18). BBSome plays a critical role in the regulation of cilia composition and in intraflagellar trafficking. Indeed, transmembrane (TM) and periferal membrane protein are transported in the cilium in a BBSome dependent manner. BBS3 triggers BBSome complex /cargo proteins interaction and their transition across the control barrier (transition zone - BBS13, BBS14, BBS15) into the cilium. In bold, genes included in our NGS panel

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