DNAL1 was identified as a potential candidate gene for primary ciliary dyskinesia (PCD), a genetically heterologous disorder characterized by chronic infections of the upper and lower airways that often leads to permanent lung damage, randomization of left/right body symmetry, and reduced fertility. DNAL1 is reported to be expressed solely in tissues carrying motile cilia for flagella and interacts with DNAH5, a protein that when mutated has been shown to result in PCD. It has been suggested that DNAL1 serves a regulatory function for DNAH5 activity in outer dynein arms of sperm flagella, respiratory cilia, and ependymal cilia. DNAL1 has also been recently identified as an HIV dependency factor (HDF), suggesting that DNAL1 may be an important drug target in HIV treatment. At least two isoforms of DNAL1 are known to exist.
C14orf168, CILD16; Dynein light chain 1, axonemal; dynein, axonemal, light chain 1; LC1