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Center for Nephrology and Metabolic Disorders
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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.

external link
2.

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

external link
3.

NCBI article

NCBI 26123 external link
4.

OMIM.ORG article

Omim 613847 external link
5.

Orphanet article

Orphanet ID 310043 external link
6.

Wikipedia article

Wikipedia EN (TCTN3) external link
Update: Aug. 14, 2020
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