- Source: LRRC50
Leucine-rich repeat-containing protein 50 is a protein that in humans is encoded by the LRRC50 gene.
Function
Leucine-rich repeat-containing protein 50 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 LRRC50 gene are associated with primary ciliary dyskinesia.
References
Further reading
External links
GeneReviews/NCBI/NIH/UW entry on Primary Ciliary Dyskinesia
This article incorporates text from the United States National Library of Medicine, which is in the public domain.