Tetratricopeptide repeat protein 21B
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.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
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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Update: Aug. 14, 2020