BBS2 encodes a core component of the BBSome complex, a coat complex essential for primary cilium formation and function 1. The BBSome associates with Rab8 guanosine nucleotide exchange factors at the basal body, enabling Rab8-GTP-mediated docking and fusion of carrier vesicles at the ciliary base to facilitate ciliary membrane extension 2. BBS2 also regulates sonic hedgehog pathway signaling through smoothened (SMO) ciliary trafficking control. Beyond ciliary function, BBS2 negatively regulates adipogenesis, with loss of function promoting fat accumulation through PPARγ and FABP4 pathway activation 3. Mutations in BBS2 cause Bardet-Biedl syndrome, a pleiotropic ciliopathy characterized by renal cysts, retinal degeneration, obesity, and skeletal anomalies 1. Notably, BBS2 mutations can present as nonsyndromic retinitis pigmentosa, suggesting tissue-specific ciliary requirements 45. A recurrent splice site mutation (c.534+1G>T) shows population-specific founder effects in Taiwanese BBS2 patients 6. Translational readthrough drugs (ataluren, amlexanox) restore full-length BBS2 protein from nonsense mutations, recovering ciliogenesis and ciliary signaling in patient fibroblasts, indicating potential therapeutic strategies for nonsense-mediated BBS2 ciliopathies 2.