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.
Davis EE et al. (2011) TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
Tran PV et al. (2008) THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia.
NCBI 79809 [^]
Omim 612014 [^]
Orphanet ID 260351 [^]
Update: April 29, 2019