BBS5

(redirected from Bardet-Biedl syndrome 5)

BBS5

A gene on chromosome 2q31.1 that encodes a protein of the BBSome complex, which is required for ciliogenesis and ciliary function. BBS5 is mediated in part by the Rab8 GDP/GTP exchange factor, which localises to the basal body and contacts the BBSome.

Molecular pathology
BBS5 mutations occur in Bardet-Biedl syndrome.