Entrez 123872 | Ensembl ENSG00000154099 | |
Aliases DNAAF1, CILD13, LRRC50, ODA7, dynein (axonemal) assembly factor 1 External IDs MGI: 1915520 HomoloGene: 12256 GeneCards: DNAAF1 | ||
Leucine-rich repeat-containing protein 50 is a protein that in humans is encoded by the LRRC50 gene.
Contents
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
LRRC50 Wikipedia(Text) CC BY-SA