Bardet-Biedl syndrome (BBS) is a rare genetic disorder belonging to the group of ciliopathies, which encompasses several diseases that are caused by defects in cilia structure and/or function, especially affecting the primary cilium. Mutations of the BBS12 gene accounts for approximately 5% of all BBS cases []. BBS12 is part of the BBS/CCT complex and is required or BBSome assembly []. BBSome plays a key role in mediating molecular/vesicular transport in and out of the primary cilium, and also in intraciliary trafficking as part of the intraflagellar transport machinery [].
Bardet-Biedl syndrome (BBS) is a human genetic disorder associated with ciliary dysfunction, resulting in obesity, retinal degeneration, polydactyly, and nephropathy. Twelve BBS genes (BBS1-12) have been identified. BBS6, BBS10, and BBS12 have sequence homology to the CCT (also known as TRiC) family of group II chaperonins. They form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly [].
