TABLE 1.

A comprehensive list of ependymal cilia dysfunction-related genes.

Gene	Protein localization/Function	Structural defect in ependymal cilia	Typical functional defect in ependymal cilia	References
FoxJ1	Transcription factor	Inability of centrioles to be transported to the surface of ECs	Lack of ependymal cilia	Jacquet et al., 2009; Lewis and Stracker, 2021
Mcidas	Transcription factor	Inability to extend centrioles	Lack of ependymal cilia	Lewis and Stracker, 2021; Omiya et al., 2021
GemC1	Transcription factor	Inability to extend centrioles	Lack of ependymal cilia	Lewis and Stracker, 2021; Omiya et al., 2021
NHERF1	Apical cytoplasm	Inability to establishes protein complexes at the apical PM	Lack of ependymal cilia	Georgescu et al., 2015
Odf2	BF in the polarized organization	Inability of formation of BF	Lack of ependymal cilia	Kunimoto et al., 2012
CCNO	Apical cytoplasm	The reduction of the number of centrioles	Lack of ependymal cilia	Wallmeier et al., 2014; Funk et al., 2015; Núnez-Ollé et al., 2017
NME7	MT organizing center	The reduction of the number of centrioles	Lack of ependymal cilia	Liu et al., 2014; Šedová et al., 2021
Jhy	Unknown	Altered structure of axonemes	Immotile ependymal cilia	Appelbe et al., 2013; Muniz-Talavera and Schmidt, 2017
DNAAF1/LRRC50/ODA7	Cytoplasmic, DA assembling	ODA + IDA defect	Immotile ependymal cilia	Duquesnoy et al., 2009; Loges et al., 2009; Ha et al., 2016
DNAAF2/PF13/KTU	Cytoplasmic, DA assembling	ODA + IDA defect	Immotile ependymal cilia	Omran et al., 2008; Ha et al., 2016
DNAAF3/PF22	Cytoplasmic, DA assembling	ODA + IDA defect	Immotile ependymal cilia	Mitchison et al., 2012; Ha et al., 2016
DNAAF4/DYX1C1	Cytoplasmic, DA assembling	ODA + IDA defect	Immotile ependymal cilia	Chandrasekar et al., 2013; Ha et al., 2016; Cho et al., 2018
LRRC6	Cytoplasmic, DA assembling	ODA + IDA defect	Immotile ependymal cilia	Kott et al., 2012; Inaba et al., 2013, 2016
CCDC151	ODA targeting and docking	ODA defect	Immotile ependymal cilia	Alsaadi et al., 2014; Hjeij et al., 2014; Chiani et al., 2019
DNAI1	ODA	ODA defect	Immotile ependymal cilia	Horváth et al., 2005; Zariwala et al., 2006; Failly et al., 2008; Ziêtkiewicz et al., 2010; Mazor et al., 2011; Wildung et al., 2019; Bhushan et al., 2021
DNAI2	ODA	ODA defect	Immotile ependymal cilia	Rocca et al., 2008, 2020
ZMYND10	Cytoplasmic, DA assembling	ODA + IDA defect	Immotile ependymal cilia	Rocca et al., 2008; Moore et al., 2013; Zariwala et al., 2013; Cho et al., 2018
CCDC39	Nexin-dynein regulatory complexes (N-DRCs)	MT disorganization and IDA defect	Short and immotile ependymal cilia	Merveille et al., 2011; Abdelhamed et al., 2018; Emmert et al., 2019
DNA Polλ	DNA repair polymerase	IDA defect	Immotile ependymal cilia	Kobayashi et al., 2002
RSPH9	Radial spokes (RSs)	MT disorganization (CP-RS defect)	Lower beating amplitude and disorientation of ependymal cilia	Castleman et al., 2009; Ziêtkiewicz et al., 2012; Kott et al., 2013; Zou et al., 2020
Hydin	CP	Reduction of ciliary movement frequency	Disorientation of ependymal cilia	Dawe et al., 2007; Al Omran et al., 2017
CFAP221/PCDP1	CP	Reduction of ciliary movement frequency	Disorientation of ependymal cilia	Lee et al., 2008; DiPetrillo and Smith, 2010; McKenzie et al., 2018; McKenzie and Lee, 2020
CFAP54	CP	Reduction of ciliary movement frequency	Disorientation of ependymal cilia	Lee et al., 2008; McKenzie et al., 2015, 2018; McKenzie and Lee, 2020
DAPLE	Anterior side of the apical membrane	PCP disorder	Disorientation of ependymal cilia	Takagishi et al., 2017
DVLs	Unknown	PCP disorder	Disorientation of ependymal cilia	Ohata et al., 2014; Yamada et al., 2021
EFCAB1	Unknown	PCP disorder	Disorientation of ependymal cilia	Sasaki et al., 2019