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TMEM67 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). The human TMEM67 gene encodes a 995-amino acid protein, which they authors called meckelin, with a calculated unglycosylated weight of 108 kD. Human and rat meckelin share 84% identity. Meckelin was predicted to contain a signal peptide, at least 2 cysteine-rich repeats, and a 490-residue extracellular region with 4 N-linked glycosylated sites, followed by 7 transmembrane domains and a 30-residue cytoplasmic tail.
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