BBS1

BBS1 encodes the Bardet-Biedl syndrome 1 protein, a core subunit of the BBSome complex—an evolutionarily conserved assembly critical for ciliary biogenesis and membrane protein trafficking. It facilitates the transport of G protein-coupled receptors (GPCRs) and other cargo to primary cilia, supporting their structural integrity and signaling functions. Common aliases include BBS1 and BBS1_HUMAN.
Dysfunctional BBS1 disrupts Hedgehog signaling, a pathway vital for embryonic development and tissue homeostasis. Mutations in BBS1 are the leading cause of Bardet-Biedl syndrome, a rare disorder marked by obesity, retinal dystrophy, polycystic kidneys, and cognitive deficits. Preclinical research explores small molecules targeting BBSome assembly or gene editing to restore ciliary function, though clinical translations are still in early stages.