This gene encodes a protein that has been directly linked to Bardet-Biedl syndrome. The primary features of this syndrome include retinal dystrophy, obesity, polydactyly, renal abnormalities and learning disabilities. Experimentation in non-human eukaryotes suggests that this gene is expressed in ciliated cells and that it is required for the formation of cilia. Alternate transcriptional splice variants have been observed but have not been fully characterized.
^Woods MO, Young TL, Parfrey PS, Hefferton D, Green JS, Davidson WS (Mar 1999). "Genetic heterogeneity of Bardet-Biedl syndrome in a distinct Canadian population: evidence for a fifth locus". Genomics. 55 (1): 2–9. doi:10.1006/geno.1998.5626. PMID9888993.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.
Li JB, Gerdes JM, Haycraft CJ, et al. (2004). "Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene". Cell. 117 (4): 541–52. doi:10.1016/S0092-8674(04)00450-7. PMID15137946.