The IFT140 gene encodes a subunit of intraflagellar transport complex A (IFTA) that is involved in the formation and maintenance of cilia and retrograde ciliary transport. This intraflagellar transport plays a very important role in the proper functioning of ciliated cells. It is also required for the proper assembly of these ciliated cells, especially the cells in the retina.
Mutations in the IFT140 gene may change the shape of the IFT140 protein or its interactions with other IFT proteins, likely impairing the assembly of IFT-A and the development or maintenance of cilia. As a result, fewer cilia may be present or functional, affecting many organs and tissues in the body. Two different kinds of ciliopathies, Mainzer-Saldino syndrome and Jeune Asphyxiating Thoracic dystrophy, have been linked to mutations in the IFT140 gene. In addition, variants in the gene have also been associated with certain forms of retinitis pigmentosa and Leber Congenital Amaurosis.