FIGURE: 1 / 2
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: Bardet-Biedl syndrome 8 protein; Bardet-Biedl syndrome 8 protein homolog; Bardet-Biedl syndrome type 8; Tetratricopeptide repeat protein 8; TPR repeat protein 8
Gene Aliases: 0610012F22Rik; AV001447; BBS8; RP51; TTC8