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 involved in the formation of cilia. Alternate transcriptional splice variants have been characterized.
Bardet-Biedl syndrome 8 protein; Bardet-Biedl syndrome type 8; BBS8; tetratricopeptide repeat domain 8; Tetratricopeptide repeat protein 8; TPR repeat protein 8; TTC8