DNAL4 Human

DNAL4 is part of the dynein complex, which is responsible for the movement of cilia and flagella. The dynein complex generates force towards the minus ends of microtubules, a process that is essential for the motility of these cellular structures . The protein has ATPase activity, which means it can hydrolyze ATP to produce energy required for its motor functions .

The DNAL4 protein is expressed in tissues that contain motile cilia or flagella. This includes respiratory epithelial cells, where it plays a role in the movement of respiratory cilia, and sperm cells, where it is involved in the movement of sperm flagella . The expression of DNAL4 is crucial for the proper functioning of these motile structures.

The primary biological function of DNAL4 is to facilitate the movement of cilia and flagella. This movement is essential for various physiological processes, including the clearance of mucus and debris from the respiratory tract and the motility of sperm cells, which is necessary for fertilization .

Mutations in the DNAL4 gene have been associated with certain medical conditions. For example, defects in DNAL4 can lead to primary ciliary dyskinesia, a disorder characterized by chronic respiratory tract infections, reduced fertility, and other symptoms due to impaired ciliary function . Additionally, DNAL4 has been implicated in congenital mirror movement disorder, a condition where voluntary movements on one side of the body are mirrored by involuntary movements on the opposite side .

Recombinant DNAL4 protein is used in various research applications to study the function and regulation of dynein complexes. Understanding the role of DNAL4 in ciliary and flagellar motility can provide insights into the mechanisms underlying related disorders and contribute to the development of therapeutic strategies .