The IFT machinery is organized in two structural complexes — A and B. These complexes are involved in the coordinated movement of macromolecular cargo from the basal body along axonemal microtubules to the cilium tip and back again. The anterograde movement of IFT particles out to the distal tip of cilia and flagella is driven by kinesin-2 while the retrograde movement of particles back to the cell body is driven by cytoplasmic dynein 1b/2 The IFT-A protein complex is involved in retrograde ciliary transport. Disruption of IFT43 disturbs transport from the ciliary tip to the base. Anterograde transport in the opposite direction remains normal resulting in accumulation of the IFT complex B proteins in the ciliary tip. Pathology The visual defects are due to photoreceptor dystrophy. The chronic kidney failure is due to tubulointerstitial nephropathy. The liver fibrosis is secondary to ductal plate malformation.
Sensenbrenner syndrome
Van Wyk and Grumbach syndrome
Helsmoortel-Van der Aa syndrome
Nezelof syndrome
Strømme syndrome
Kleeblattschaedel syndrome
Senter syndrome
Löffler's syndrome