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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).
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Protein Aliases: Meckel syndrome type 3 protein; Meckel syndrome type 3 protein homolog; Meckelin; Transmembrane protein 67; Wistar polycystic kidney
Gene Aliases: 5330408M12Rik; B230117O07; b2b1163.1Clo; b2b1291.1Clo; JBTS6; MECKELIN; MKS3; NPHP11; TMEM67; TNEM67; Wpk
UniProt ID: (Human) Q5HYA8, (Mouse) Q8BR76
Entrez Gene ID: (Human) 91147, (Mouse) 329795, (Rat) 313067
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