InterPro domain: IPR019170

General Information

  • Number of genes 7
  • Gene duplication stats Loading...
  • Associated GO terms GO:0060271   GO:0036038  

Abstract

Meckelin (also known as MKS3) is part of the tectonic-like complex which is required for tissue-specific ciliogenesis and may regulate ciliary membrane composition [ 1 ]. It is involved in centrosome migration to the apical cell surface during early ciliogenesis. It is required for ciliary structure and function, including a role in regulating length and appropriate number through modulating centrosome duplication [ 2 ]. It is essential for endoplasmic reticulum-associated degradation (ERAD) of surfactant protein C (sftpc) [ 3 ].

Defects in the meckelin gene leads to a broad spectrum of disorders, collectively termed ciliopathies. The ciliopathy range of diseases includes Meckel-Gruber syndrome, Bardet-Biedl syndrome, Joubert syndrome, and nephronophtisis among others [ 4 , 4 , 5 , 6 ].


1. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum. Mol. Genet. 16, 173-86
2. Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3. Hum. Mol. Genet. 18, 3311-23
3. A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. Nat. Genet. 43, 776-84
4. Synthesis of biological molecules on molecular sieves. Orig. Life 6, 401-6
5. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum. Mutat. 30, E432-42
6. Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). J. Med. Genet. 46, 663-70

Species distribution

Gene table

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