Importantly, the results of our functional assays further clarify some of the known effects of BBSome ciliopathy in humans: it has been suggested that deficiency in any member of BBSome or chaperonin-like BBS complex disrupts the functionality of the BBSome and causes similar phenotypes in human patients and BBS animal models60, 63, 64, 65, 66, 67. The gene discussed is BBS2; the disease is Bardet-Biedl syndrome.