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TMEM67

Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia

TMEM67
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Meckelin is a protein that in humans is encoded by the TMEM67 gene.[5][6][7]

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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.[7]

Clinical significance

Defects in this gene are a cause of Meckel syndrome type 3 (MKS3),[6] nephronophthisis[8][9] and Joubert syndrome type 6 (JBTS6).[10]

See also

References

Further reading

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