Transmembrane protein 67
The TMEM67 gene encodes a ciliary protein that is responsible for the localizytion of the primary cilium to the apical membrane. Mutations cause various recessive ciliopathies such as Joubert syndrome 6, Meckel syndrome 3, and Nephronophthisis 11. In Bardet-Biedl syndrome 1, mutation in this gene can further modify the phenotype.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Romano S et al. (2006) Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study.
|
2. |
Abdelhamed ZA et al. (2013) Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects.
|
3. |
Smith UM et al. (2006) The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
|
4. |
Adams M et al. (2012) A meckelin-filamin A interaction mediates ciliogenesis.
|
5. |
Otto EA et al. (2009) Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).
|
6. |
Baala L et al. (2007) The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
|
7. |
Doherty D et al. (2010) Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
|
8. |
Gentile M et al. (1996) COACH syndrome: report of two brothers with congenital hepatic fibrosis, cerebellar vermis hypoplasia, oligophrenia, ataxia, and mental retardation.
|
9. |
Verloes A et al. (1989) Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis.
|
10. |
Dafinger C et al. (2011) Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.
|
11. |
Tammachote R et al. (2009) Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3.
|
12. |
Dawe HR et al. (2007) The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.
|
13. |
Williams CL et al. (2011) MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis.
|
14. |
Consugar MB et al. (2007) Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.
|
15. |
Garcia-Gonzalo FR et al. (2011) A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
|
16. |
Leitch CC et al. (2008) Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
|
17. |
NCBI article
NCBI 91147
|
18. |
OMIM.ORG article
Omim 609884
|
19. |
Orphanet article
Orphanet ID 120140
|
20. |
Wikipedia article
Wikipedia EN (TMEM67)
|
Update: Aug. 14, 2020