Transmembrane protein 231
The TMEM231 gene encodes a transmembrane protein that is involved in the formation of a diffusion barrier between cytoplasm and cilium. Mutations cause autosomal recessive Meckel syndrome 11 and Joubert syndrome 20.
Chih B et. al. (2011) A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain.
Srour M et. al. (2012) Mutations in TMEM231 cause Joubert syndrome in French Canadians.
Shaheen R et. al. (2013) Mutations in TMEM231 cause Meckel-Gruber syndrome.
Update: Oct. 11, 2018