TTC23

tetratricopeptide repeat domain 23

Ensembl:: ENSG00000103852
UniProt:: Q5W5X9
Synonyms:: FLJ12572, HCC-8

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

Subcellular localization

basal body, cilia, transition zone

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鈥搗an Creveld (EvC) zone (29459677)

Note: Additional interactive sections (perturbation matrix visualization, phylogenetic conservation strip, protein complex network, STRING interactions) require JavaScript. Browse CiliaHub for the full experience.