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:
Related Diseases:
References:
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Reiter JF et al. (2006) Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.
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2. |
Thomas S et al. (2012) TCTN3 mutations cause Mohr-Majewski syndrome.
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3. |
NCBI article
NCBI 26123
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4. |
OMIM.ORG article
Omim 613847
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5. |
Orphanet article
Orphanet ID 310043
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6. |
Wikipedia article
Wikipedia EN (TCTN3)
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Update: Aug. 14, 2020