BBSome complex member BBS7 (BBS7)

BBSome complex member BBS7 is a core protein subunit of the BBSome, an octameric protein complex crucial for protein trafficking to the primary cilium membrane in eukaryotic cells[1][2][3][7][8]. BBS7 forms a tight dimer with BBS2 via a coiled-coil interaction; this dimer, together with BBS9, forms a central platform for BBSome complex assembly[1][3][4]. The BBSome acts as a coat complex, selecting and promoting correct membrane protein localization within cilia, which is essential for proper ciliary signaling. Mutations in BBS7 disrupt BBSome assembly, leading to the multisystemic disorder Bardet-Biedl syndrome, characterized by symptoms including retinal degeneration, obesity, renal dysfunction, and male infertility due to ciliary dysfunction[2][5]. BBS7 does not currently serve as a direct drug target or biomarker, nor is it classed as a classical pharmacological target such as a receptor or enzyme.

Other names

BBS7BBS2L1FLJ10715BBS2-like protein 1Bardet-Biedl syndrome 7 proteinBBS2-like 1