A role of Nek1 in cilia function is further suggested by the fact that mutations in Nek1 are linked to ciliopathies in vivo: polycystic kidney disease in mice (Upadhya et al., 2000) and short-rib thoracic dysplasia or oral-facial-digital syndrome type II in humans (El Hokayem et al., 2012, Monroe et al., 2016, Thiel et al., 2011). This evidence concerns the gene NEK1 and ciliopathy.