tetratricopeptide repeat domain 21B
Alias
ATD4 | IFT139 | IFT139B | JBTS11 | NPHP12 | Nbla10696 | SRTD4 | THM1
This gene encodes a member of TTC21 family, containing several tetratricopeptide repeat (TPR) domains. This protein is localized to the cilium axoneme, and may play a role in retrograde intraflagellar transport in cilia. Mutations in this gene are associated with various ciliopathies, nephronophthisis 12, and asphyxiating thoracic dystrophy 4. [provided by RefSeq, Oct 2011].