TALPID3 in Joubert syndrome and related ciliopathy disorders

TALPID3 (KIAA0586) is a centrosomal protein which has specific functions during centriole maturation during the formation of the centrosomal-dependent organelle, the cilia, as well as less well understood roles in the cytoskeleton and during cell polarisation. Cilia are an essential component of signal transduction during embryonic development and the loss of TALPID3 function in humans can cause both severe lethal and mild cilia-related developmental disorders known as 'ciliopathies' the most common being Joubert syndrome. TALPID3 related ciliopathies affect the development of multiple organ systems including the brain, skeleton, eyes, lungs and liver. The consequences of TALPID3 dysfunction outside of the cilia and the implications for human diseases are less well understood.