Molecular characteristics

ARL3 works in cilia by transporting signals from outside the cell to inside the cell. This allows the cell to respond to signals and maintain normal function of tissues and organs. So far only 2 mutations in 2 families have been identified in the ARL3 gene. These mutations cause a change in the structure of ARL3 which prevent it from sending signals to the cell. This affects the development of organs early in life, as well as correct function of these organs throughout life.