IFT46 is a 304 amino acid protein that belongs to the IFT46 family. IFT46 localizes to the cilium basal body but can also be found along the length of the cilium and is a part of a complex involved in intraflagellar transport (IFT). In addition, IFT46 is involved in the bi-directional movement of particles that is required for the assembly, maintenance, and functionality of primary cilia. Furthermore, IFT46 may be involved in skeletogenesis and chondrocyte maturation. Two isoforms exist due to alternate splicing events and the gene encoding IFT46 maps to human chromosome 11. Chromosome 11 houses over 1,400 genes and comprises nearly 4% of the human genome. Jervell and Lange-Nielsen syndrome, Jacobsen syndrome, Niemann-Pick disease, hereditary angioedema and Smith-Lemli-Opitz syndrome are associated with defects in genes that maps to chromosome 11.