Leucine-rich repeat-containing protein 56 (LRRC56)

Leucine-rich repeat-containing protein 56 (LRRC56) is a conserved cytoplasmic protein found in species with motile cilia that rely on intraflagellar transport (IFT) for axonemal assembly. In humans, LRRC56 is essential for the assembly of outer dynein arms at the distal segment of the axoneme, a core structural feature of motile cilia and flagella. LRRC56 interacts with IFT proteins, notably IFT88, and functions as a cargo adaptor to facilitate dynein transport to cilia during formation. Deleterious mutations in LRRC56 lead to defects in ciliary motility without conspicuous ultrastructural abnormalities, resulting in primary ciliary dyskinesia, reduced mucociliary clearance, recurrent respiratory infections, fertility-related disorders, and laterality defects (abnormal organ positioning). The protein is predominantly expressed in ciliated tissues including testis, pituitary gland, and respiratory epithelium. No drugs are known to interact with LRRC56, and it is not a classical receptor or enzyme but rather a structural and assembly factor critical for dynein arm targeting and function within motile cilia.

Other names

LRRC56FLJ00101oda8DKFZp761L1518DNAAF12dynein axonemal assembly factor 12CILD39