WDR11 Gene: Function, Mutations, and Associated Diseases

WDR11 (WD repeat domain 11) encodes a protein containing multiple WD40 repeats, which are involved in protein-protein interactions. The protein is a component of the intraflagellar transport (IFT) complex and is essential for primary cilia assembly and function. WDR11 plays a critical role in neurodevelopment, particularly in the formation of the cerebellar vermis and the corpus callosum. Mutations in WDR11 are associated with Joubert syndrome, a ciliopathy characterized by cerebellar vermis hypoplasia, intellectual disability, and retinal dystrophy. The gene is also implicated in other neurodevelopmental disorders and certain cancers.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Hedgehog signaling pathway

• Intraflagellar transport (IFT)

• Ciliopathy pathway

The WDR11 protein is a 1224-amino acid WD40 repeat-containing protein that localizes to the base of primary cilia and interacts with IFT proteins. It is required for ciliogenesis and Hedgehog signal transduction. The protein is highly expressed in the brain and testis, consistent with its roles in neurodevelopment and spermatogenesis. Structural studies indicate that the WD40 repeats form a beta-propeller scaffold that mediates protein-protein interactions within the IFT complex.