The TCTN1 gene encodes a membrane protein essential for cilia assambly. Mutations cause autosomal recessive Joubert syndrome 13.
Reiter JF et. al. (2006) Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.
Garcia-Gonzalo FR et. al. (2011) A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
Srour M et. al. (2015) Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
Update: Sept. 26, 2018