LRRC50
Protein-coding gene in the species Homo sapiens
From Wikipedia, the free encyclopedia
Leucine-rich repeat-containing protein 50 is a protein that in humans is encoded by the LRRC50 gene.[5][6]
AliasesDNAAF1, CILD13, LRRC50, ODA7, dynein (axonemal) assembly factor 1, dynein axonemal assembly factor 1, swt, DAU1
External IDsOMIM: 613190; MGI: 1915520; HomoloGene: 12256; GeneCards: DNAAF1; OMA:DNAAF1 - orthologs
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.[5]
Clinical significance
Mutations in the LRRC50 gene are associated with primary ciliary dyskinesia.[6]
