BBS2

The protein encoded by this gene is a component of the BBSome complex, which functions as a coat complex that sorts specific membrane proteins to primary cilia and is required for ciliogenesis and ciliary membrane extension. Mutations cause Bardet-Biedl syndrome, an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation, and cognitive disability, as well as retinitis pigmentosa. The gene shows minimal constraint against loss-of-function variants (pLI near zero, LOEUF >1), consistent with its recessive inheritance pattern where heterozygous carriers are typically unaffected.