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:
Related Diseases:
References:
1. |
Garcia-Gonzalo FR et al. (2011) A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
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2. |
Reiter JF et al. (2006) Tectonic, a novel regulator of the Hedgehog pathway required for both activation and inhibition.
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3. |
Sang L et al. (2011) Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
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4. |
Huppke P et al. (2015) Tectonic gene mutations in patients with Joubert syndrome.
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5. |
Shaheen R et al. (2011) A TCTN2 mutation defines a novel Meckel Gruber syndrome locus.
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6. |
NCBI article
NCBI 79867
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7. |
OMIM.ORG article
Omim 613846
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8. |
Orphanet article
Orphanet ID 260361
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Update: Aug. 14, 2020