TTC6

tetratricopeptide repeat domain 6

Ensembl:
ENSG00000139865
UniProt:
Q86TZ1
OMIM:
620954
Synonyms:
C14ORF25, NCRNA00291

Cilia effects upon perturbation of TTC6

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
Shorter cilia

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
  • Kim et al. 2010 (siRNA) [siRNA]: Longer Cilia (Area per Cilia z=2.38) PMID:20393562

Subcellular localization

basal body, cilia

Functional category

  • Ciliary assembly/disassembly

Function

Mutated in MKS. TTC6 localizes to the centrosome and ciliary shaft in controls but only to the centrosome in patient fibroblasts (32055034)