該基因編碼的蛋白質定位于初生纖毛和質膜。該基因在中心粒向心尖膜的遷移和初生纖毛的形成中起作用已發現該基因編碼不同亞型的多個轉錄變體。該基因缺陷是梅克爾綜合征3型（MKS3）和Joubert綜合征6型（JBTS6）的原因之一。
The protein encoded by this gene localizes to the primary cilium and to the plasma membrane. The gene functions in centriole migration to the apical membrane and formation of the primary cilium. Multiple transcript variants encoding different isoforms have been found for this gene. Defects in this gene are a cause of Meckel syndrome type 3 (MKS3) and Joubert syndrome type 6 (JBTS6).