Protein-coding gene in the species Homo sapiens
Meckelin is a protein that in humans is encoded by the "TMEM67" gene.
Function.
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.
Clinical significance.
Defects in this gene are a cause of Meckel syndrome type 3 (MKS3), nephronophthisis and Joubert syndrome type 6 (JBTS6).
References.
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Further reading.
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