TTC23

Cilia effects upon perturbation of TTC23

Cilia number / % ciliated:

Decreased cilia number

Loss-of-function effect:

Longer cilia

Overexpression effect:

Unknown

Ciliogenesis screen results (3 screens)

• Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
• Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.08) PMID:29459680
• Pusapati et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, neg_rank=31, lfc=-3.79) PMID:30270045

Ciliopathy associations

• Orofaciodigital Syndrome

References: PMID:32055034

Subcellular localization

basal body, cilia, transition zone

References: PMID:41005307, PMID:32055034, PMID:29459677

Functional category

• Ciliary assembly/disassembly
• Transition zone

Function

Mutated in OFD. TTC23 localizes to the shaft of the cilia in controls but is restricted mainly to the base of the cilia in patient fibroblasts. Patient fibroblasts show normal ciliogenesis but increased length of cilia compared with control (32055034). Affinity purification and mass spectrometry show TTC23 to strongly associate with IQCE and EFCAB7, components of the Ellis–van Creveld (EvC) zone (29459677)