Tectonic-1
The TCTN1 gene encodes a membrane protein essential for cilia assambly. Mutations cause autosomal recessive Joubert syndrome 13.
Genetests:
Related Diseases:
References:
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Garcia-Gonzalo FR et al. (2011) A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
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2. |
Srour M et al. (2015) Joubert Syndrome in French Canadians and Identification of Mutations in CEP104.
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3. |
Reiter JF et al. (2006) Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.
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4. |
NCBI article
NCBI 79600
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5. |
OMIM.ORG article
Omim 609863
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6. |
Orphanet article
Orphanet ID 274226
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Update: Aug. 14, 2020