TMEM67

Meckelin is a is_associated_with::protein that in humans is encoded by the TMEM67 is_associated_with::gene.

Function
The protein encoded by this gene localizes to the primary is_associated_with::cilium and to the plasma membrane. The gene functions in is_associated_with::centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different is_associated_with::isoforms have been found for this gene.

Clinical significance
Defects in this gene are a cause of is_associated_with::Meckel syndrome type 3 (MKS3), is_associated_with::nephronophthisis and is_associated_with::Joubert syndrome type 6 (JBTS6).