BBS5

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.
References in periodicals archive ?
The BBSome is a stable protein complex involved in the biogenesis of the PC, which is formed by seven highly conserved BBS proteins (BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, and BBS9) and by the protein BBSome-interacting protein of 10 KDa (BBIP10) [27-29].
Nearly 9,000 of products have been added in this launch such as Recombinant Human ZNF80 293 Cell Lysate, Recombinant Human VAMP8 293 Cell Lysate, Recombinant Human YIF1B 293 Cell Lysate, and Recombinant Human BBS5 293 Cell Lysate etc.
Eleven genes are known to be associated with this syndrome: BBS1, BBS2, ARL6/BBS3, BBS4, BBS5, MKKS/BBS6, BBS7, TTC8/BBS8, B1/BBS9, BBS10, and TRIM32/ BBS11.4.