MKS1

The protein localizes to the basal body and transition zone of primary cilia, where it forms part of the tectonic-like complex that regulates ciliary structure and prevents diffusion of transmembrane proteins between cilia and plasma membranes. Mutations cause autosomal recessive ciliopathies including Meckel syndrome (typically lethal with occipital encephalocele, cystic kidneys, and polydactyly), Bardet-Biedl syndrome (characterized by retinal dystrophy, obesity, polydactyly, and intellectual disability), and Joubert syndrome (featuring cerebellar vermis hypoplasia and developmental delay). This gene is not highly constrained against loss-of-function variants.