Bardet-Biedl syndrome 4 protein (BBS4)

Bardet-Biedl syndrome 4 protein (BBS4) is a structural, tetratricopeptide repeat domain-containing protein and a core component of the BBSome complex, which regulates protein trafficking to and from cilia in human cells. BBS4 plays a role in recruiting centriolar satellite proteins, organizing the microtubule and actin cytoskeleton, maintaining proteasomal integrity, and affecting cellular signaling and homeostasis, including mitochondrial function. Mutations in BBS4 can disrupt ciliary function and are causative for Bardet-Biedl syndrome, a multisystemic ciliopathy characterized by retinal degeneration, obesity, polydactyly, and renal anomalies. BBS4 is localized primarily at the basal body and cilium in cells. There are no approved drugs targeting BBS4, but it serves as a molecular biomarker for diagnosis and research into ciliopathy mechanisms.

Other names

Bardet-Biedl syndrome 4 (BBS4)BBSome subunit 4