BBS gene (BBS1, BBS2, BBS4, BBS7)

BBS genes, including BBS1, BBS2, BBS4, and BBS7, produce proteins involved in the function of cilia—tiny hair-like structures on cells that help with movement and signaling. These genes are part of a group called Bardet-Biedl syndrome (BBS) genes, mutations of which can lead to Bardet-Biedl syndrome, a genetic disorder affecting multiple organs. Proper functioning of these proteins ensures cilia work correctly, influencing vision, kidney health, and development. When these genes are defective, cilia malfunction, causing various symptoms like vision problems, obesity, and learning difficulties.