Bardet-Biedl syndrome 9 protein (BBS9)

Bardet-Biedl syndrome 9 protein (BBS9) is a core component of the BBSome complex, a multimeric assembly that regulates the trafficking of membrane proteins to and from the primary cilium[1][4]. The BBSome is crucial for ciliogenesis, and BBS9 plays an essential structural and regulatory role in its assembly and ciliary localization. BBS9 is downregulated by parathyroid hormone in osteoblastic cells and may mediate hormone action in bone tissue[1][5]. Mutations in BBS9 cause Bardet-Biedl syndrome, a pleiotropic ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal dysplasia, cognitive impairment, and additional developmental defects[1][7]. The protein features a structural N-terminal seven-bladed β-propeller domain which facilitates protein-protein interactions within the BBSome[1][2][3]. There are currently no known clinical drugs or targeted therapies for BBS9.

Other names

Protein PTHB1PTHB1B1C18D1Bardet-Biedl syndrome 9 proteinParathyroid hormone-responsive B1 gene proteinPTH-responsive osteosarcoma B1 proteinparathyroid hormone responsive B1 gene