Species Human Entrez 91147 | Human Mouse Ensembl ENSG00000164953 | |
Aliases TMEM67, JBTS6, MECKELIN, MKS3, NPHP11, TNEM67, transmembrane protein 67 External IDs MGI: 1923928 HomoloGene: 71886 GeneCards: TMEM67 | ||
Meckelin is a protein that in humans is encoded by the TMEM67 gene.
Contents
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
TMEM67 Wikipedia(Text) CC BY-SA