Bardet Biedl Syndrome Protein 12 (BBS12)

BBS12 is a molecular chaperone that aids in protein folding upon ATP hydrolysis. Defects in this gene are a cause of Bardet-Biedl syndrome type 12. Two transcript variants encoding the same protein have been found for this gene.the BBS6, BBS10, and BBS12 genes are characterized by unusually rapid evolution and are likely to perform ciliary functions specific to vertebrates that are important in the pathophysiology of the syndrome and together they account for about one-third of the total BBS mutational load. Consistent with this notion, suppression of each family member in zebrafish yielded gastrulation with movement defects characteristic of other BBS morphants, whereas simultaneous suppression of all 3 members resulted in severely affected embryos, possibly hinting at partial functional redundancy in this protein family.