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Official Full Name: tetratricopeptide repeat domain 21B
Also known as: ATD4; THM1; FAP60; FLA17; SRTD4; CFAP60; IFT139; JBTS11; NPHP12; IFT139B; Nbla10696
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.