Rotatin encodes a protein that is localized at the ciliary basal bodies in human fibroblast cells. While the exact function of Rotatin is yet to be elucidated, it is predicted to play a key role in early developmental processes such as axial rotation and left-right specification by maintaining ciliary structure. It may also be involved in notochord development. Mouse studies of homozygous RTTN null embryos have found to result in randomized heart looping, delayed neural tube closure, axial rotation failure and eventually, embryonic death. This further confirms the importance of Rotatin in embryonic development.
Mutations in RTTN have been associated with MSSP, a syndrome characterized by microcephaly, primordial dwarfism and polymicrogyria.