Dynein axonemal assembly factor 1 (DNAAF1)

Dynein axonemal assembly factor 1 (DNAAF1), also known as LRRC50, is a cytoplasmic, cilium-specific protein essential for the pre-assembly of both inner (IDA) and outer dynein arms (ODA) in motile cilia[1][2][3]. DNAAF1 interacts with components such as IFT88, RUVBL1, and RUVBL2, facilitating correct dynein arm assembly and localization[1]. Mutations in DNAAF1 cause primary ciliary dyskinesia (PCD), characterized by defective ciliary motion, leading to chronic respiratory disease, recurrent infections, laterality defects (heterotaxy/congenital heart disease), and male infertility[1][2][3]. The protein is expressed mainly in ciliated epithelia of the airways, lungs, and testis, focusing at the ciliary basal body and spindle poles in mitotic cells[2]. Genetic defects in DNAAF1 lead to absent or misassembled dynein arms, disorganized ciliary axonemes, and loss of ciliary motility, underpinning PCD pathophysiology[1][2]. DNAAF1 may also be involved in left-right patterning and axoneme backbone regulation[2]. No drugs are known to interact directly with DNAAF1, and the primary therapeutic interest lies in understanding its role in ciliary biogenesis and as a diagnostic biomarker for PCD subtypes[2][3].

Other names

LRRC50FLJ25330ODA7CILD13swtDAU1Leucine-rich repeat-containing protein 50outer row dynein assembly 7 homolog (Chlamydomonas)testicular tissue protein Li 110