Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The TTC21 gene encodes a ciliary protein that is responsible for retrograde intraflagellar transport. Mutations cause various recessive ciliopathies such as Joubert syndrome 11, and Nephronophthisis 12.
| Research | Method | Carrier testing |
| Turnaround | 5 days | |
| Specimen type | genomic DNA |
| Clinic | Method | Massive parallel sequencing |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| Research | Method | Genomic sequencing of the entire coding region |
| Turnaround | 25 days | |
| Specimen type | genomic DNA |
| 1. |
Davis EE et al. (2011) TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 
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| 2. |
Tran PV et al. (2008) THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia.
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| 3. |
NCBI article NCBI 79809
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| 4. |
OMIM.ORG article Omim 612014
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| 5. |
Orphanet article Orphanet ID 260351
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