Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Tectonic-3

The TCTN3 gene encodes a protein involved in Hedgehog signal transduction. Mutations cause autosomal recessive Orofaciodigital syndrome 04 and Joubert syndrome 18.

Genetests:

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

Related Diseases:

Joubert syndrome 18
TCTN3
Orofaciodigital syndrome 04
TCTN3

References:

1.

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

[^]
2.

Thomas S et al. (2012) TCTN3 mutations cause Mohr-Majewski syndrome.

[^]
3.

NCBI article

NCBI 26123 [^]
4.

OMIM.ORG article

Omim 613847 [^]
5.

Orphanet article

Orphanet ID 310043 [^]
6.

Wikipedia article

Wikipedia EN (TCTN3) [^]
Update: April 29, 2019