| Modification Notes |
Bardet-Biedl syndrome (BBS) is a pleiotropic genetic disorder characterized by obesity, photoreceptor degeneration, polydactyly, hypogenitalism, renal abnormalities, and developmental delay. BBS patients also have an increased risk of developing diabetes, hypertension, and congenital heart defects. BBS is a heterogeneous disorder; BBS genes map to eight genetic loci and encode eight proteins, BBS1-BBS8. Five BBS genes encode basal body or cilia proteins, suggesting that BBS is a ciliary dysfunction disorder. BBS6 is a Group II chaperonin-like protein that has evolved recently in animals from CCT/TRiC, a subunit of the eukaryotic chaperonin. Most of BBS6 localizes to the pericentriolar material (PCM), a proteinaceous tube surrounding centrioles. During interphase, BBS6 is restricted to the lateral surfaces of the PCM, but during mitosis, it relocalizes throughout the PCM and localizes to the intercellular bridge. |