Transmembrane protein 216
The TMEM216 gene encodes a transmembraneous protein involved in cilia assambly. Mutations cause autosomal recessive Joubert syndrome 2 and Meckel syndrome 2.
Edvardson S et. al. (2010) Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.
Valente EM et. al. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
Lee JH et. al. (2012) Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.
Update: Sept. 26, 2018