Bardet-Biedl syndrome 10 protein (BBS10)

Bardet-Biedl syndrome 10 protein (BBS10) is a chaperonin-like protein crucial for the assembly of the BBSome, an octameric complex involved in ciliary membrane biogenesis and trafficking[2][4][6]. BBS10 acts by facilitating the folding and stabilization of other proteins required for the assembly and function of the BBSome, which is essential for ciliogenesis and the maintenance of ciliary signaling pathways[3][4][7]. Mutations in the BBS10 gene are a significant cause of Bardet-Biedl syndrome (BBS), a genetically heterogeneous disorder featuring symptoms such as retinal degeneration, obesity, polydactyly, renal abnormalities, and intellectual disability[3][5][7]. BBS10 is not a structural component of the final BBSome but plays a regulatory role in its formation by interacting with both BBSome subunits and CCT chaperonin proteins, thereby ensuring proper complex assembly[2][4]. There are currently no drugs known to target BBS10 directly, and the primary clinical relevance of BBS10 is in the context of BBS diagnostics and genetic research, rather than as a conventional therapeutic target[3][7].

Other names

BBSome complex assembly protein BBS10C12orf58FLJ23560Bardet-Biedl syndrome 10 protein