Immunoprecipitation of TTC8 transfected lysate using anti-TTC8 MaxPab rabbit polyclonal antibody and Protein A Magnetic Bead (U0007), and immunoblotted with TTC8 purified MaxPab mouse polyclonal antibody (B01P) (H00123016-B01P).
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. [provided by RefSeq