NEK1 shows pleiotropic functions and has been found to be mutated in cancer cells, ciliopathies such as the polycystic kidney disease, as well as in the genetic diseases short-rib thoracic dysplasia, Mohr-syndrome and amyotrophic lateral sclerosis.
The pleiotropic deleterious effects and the formation of kidney cysts caused by NEK1 mutation in mice emphasize its involvement in the regulation of diverse cellular processes and in the etiology of polycystic kidney disease (PKD), respectively.