BBS5(redirected from DKFZp762I194)
BBS5A 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.
BBS5 mutations occur in Bardet-Biedl syndrome.
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