Dync2i2, also known as WDR34, is a dynein-2 intermediate chain. The primary cilium, where dynein-2 functions, is a sensory organelle relaying external signals into the cell. Dync2i2 is crucial for maintaining cilia function, and its mutations can lead to ciliopathies, which are genetic disorders causing malformation of organs like the kidney, liver, eyes, and skeletal dysplasias [1].

Mutations in Dync2i2 identified in patients with Jeune syndrome, short-rib polydactyly syndrome, and asphyxiating thoracic dysplasia led to different phenotypes. Quantitative proteomics showed changes in dynein-2 assembly. Also, axoneme initiation and extension, localization of intraflagellar transport complex-B proteins, transition zone integrity, and Hedgehog signalling were affected when mutant proteins were stably expressed in WDR34-knockout cells [1].

In conclusion, Dync2i2 is essential for cilia function. Its knockout-based studies have revealed its role in ciliopathies, highlighting its importance in understanding the molecular mechanisms underlying these genetic disorders and potentially guiding future diagnosis and treatment strategies.