Dynein axonemal assembly factor 11 (DNAAF11)

Dynein axonemal assembly factor 11 (DNAAF11, previously known as LRRC6) is a cytoplasmic protein characterized by multiple leucine-rich repeat (LRR) domains[3][9]. It is essential for the assembly and cytoplasmic trafficking of outer dynein arm proteins, which are subsequently incorporated into cilia and flagella[3][5][6][9]. DNAAF11 acts as a crucial assembly factor for motile cilia and is required for proper ciliary and flagellar beating, particularly in airway epithelia and sperm[3][9]. Pathogenic variants in the DNAAF11 gene cause primary ciliary dyskinesia-19 (CILD19), an autosomal recessive disorder characterized by impaired ciliary motility, leading to chronic respiratory tract infections, laterality defects, and infertility[1][3][8][9]. DNAAF11 is not a therapeutic target but is of diagnostic importance for ciliopathies, especially to identify genetic causes of primary ciliary dyskinesia[1][3][8][9].

Other names

Leucine-rich repeat containing protein 6LRRC6tilBLeucine-rich testis-specific proteinProtein tilB homologTestis-specific leucine-rich repeat proteinCILD19LRTPTSLRPseahorse