TMEM67
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Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Meckelin is a protein that in humans is encoded by the TMEM67 gene.[1][2][3]
Function
[edit | edit source]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.[3]
Clinical significance
[edit | edit source]Defects in this gene are a cause of Meckel syndrome type 3 (MKS3),[2] nephronophthisis[4][5] and Joubert syndrome type 6 (JBTS6).[6]
See also
[edit | edit source]References
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Further reading
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