DNAAF1

Dynein axonemal assembly factor 1 is a protein that in humans is encoded by the DNAAF1 gene (previously LRRC50)

Function

Dynein axonemal assembly factor 1 is cilium-specific and is required for the stability of the ciliary architecture. It is involved in the regulation of microtubule-based cilia and actin-based brush border microvilli.

Clinical significance

Mutations in the DNAAF1 gene are associated with primary ciliary dyskinesia.

References

Further reading

External links GeneReviews/NCBI/NIH/UW entry on Primary Ciliary Dyskinesia