Plays a pivotal role in proper development and function of ciliated cells. Involved in ciliogenesis and cilia maintenance. Defects in IFT140 are the cause of Mainzer-Saldino syndrome (MZSDS). MZSDS is a rare autosomal recessive disease characterized by phalangeal cone- shaped epiphyses, chronic renal disease, nearly constant retinal dystrophy, and mild radiographic abnormality of the proximal femur. Occasional features include short stature, cerebellar ataxia, and hepatic fibrosis. Note: This description may include information from UniProtKB.