TTC17

tetratricopeptide repeat domain 17

Ensembl:
ENSG00000052841
UniProt:
Q96AE7
OMIM:
619388
Synonyms:
FLJ10890

Cilia effects upon perturbation of TTC17

Cilia number / % ciliated:
Decreased cilia number
Loss-of-function effect:
No effect
Overexpression effect:
Unknown

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
increased circulating cholesterol level, increased startle reflex
Mouse ciliopathy phenotype:
abnormal reti blood vessel morphology

Ciliopathy associations

  • Biliary Atresia

Subcellular localization

basal body, cilia

Functional category

  • Ciliary assembly/disassembly
  • Actin & cytoskeleton regulation

Function

Interacts with C2orf62 and regulates ciliogenesis and actin polymerisation in ciliated cells. Depletion reduces the number of primary cilia but does not alter their length (24475127).

Model organism evidence

Danio rerio (1 reference)

C2orf62 and TTC17 are involved in actin organization and ciliogenesis in zebrafish and human.

PMIDs: 24475127