This gene encodes a protein that has been directly linkednto Bardet-Biedl syndrome. The primary features of this syndromeninclude retinal dystrophy, obesity, polydactyly, renalnabnormalities and learning disabilities. Experimentation innnon-human eukaryotes suggests that this gene is expressed innciliated cells and that it is involved in the formation of cilia.nAlternate transcriptional splice variants have been characterized.
应用类型
WB
免疫原
This TTC8 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 18-46 amino acids from the N-terminal region of human TTC8.
