Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Tectonic-2

The TCTN2 gene encodes a membrane protein essential for cilia assambly. Mutations cause autosomal recessive Joubert syndrome 24 and Meckel syndrome 8.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Meckel syndrome 08
TCTN2
Joubert syndrome 24
TCTN2

References:

1.

Garcia-Gonzalo FR et al. (2011) A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.

external link
2.

Reiter JF et al. (2006) Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.

external link
3.

Sang L et al. (2011) Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.

external link
4.

Huppke P et al. (2015) Tectonic gene mutations in patients with Joubert syndrome.

external link
5.

Shaheen R et al. (2011) A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.

external link
6.

NCBI article

NCBI 79867 external link
7.

OMIM.ORG article

Omim 613846 external link
8.

Orphanet article

Orphanet ID 260361 external link
Update: Aug. 14, 2020
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