TTC17

tetratricopeptide repeat domain 17

Tier: Gold Standard Ciliary Genes

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

Ciliopathy associations

Biliary Atresia

References: PMID:41405813, PMID:34455394

Subcellular localization

basal body, cilia

References: PMID:41405813, PMID:24475127

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).

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