ECT2L

Ciliopathy associations

• Primary Ciliary Dyskinesia

References: PMID:42721274

Subcellular localization

transition zone, Nucleoplasm, Vesicles

References: PMID:42721274

Functional category

• Protein processing & maturation
• Cilia-cytoskeleton/adhesion links
• Transition zone

Function

We identified that ECT2L and DZANK1 form the major linker complexes between adjacent TZ doublet microtubules. Biallelic loss-of-function variants in either gene cause primary ciliary dyskinesia. ECT2L and DZANK1 deficiency disrupted TZ architecture, caused microtubular abnormalities and abnormal bulbous ciliary tips, and impaired mucociliary clearance. These findings establish a direct genetic link between TZ defects and human motile ciliopathy, and illustrate how in situ structural biology can uncover mechanisms of human disease(PMID: 42721274).