DNAL1


Description

The DNAL1 (dynein axonemal light chain 1) is a protein-coding gene located on chromosome 14.

The DNAL1 gene encodes Dynein axonemal light chain 1 (LC1), a protein that is part of the outer dynein arms responsible for cilia movement powered by ATP. Mutations in DNAL1 are linked to primary ciliary dyskinesia, a disorder affecting cilia function.

DNAL1 encodes a protein that is part of the multisubunit axonemal ATPase complexes involved in generating force for cilia motility and regulating beat frequency. It is a component of the outer arm dynein (ODA) and may play a role in a mechanosensory feedback mechanism that controls ODA activity based on external conformational cues. DNAL1 achieves this by tethering the outer arm dynein heavy chain (DNAH5) to the microtubule within the axoneme. This protein is essential for ciliary function in the airways and for the function of the cilia involved in generating the nodal flow crucial for determining left-right asymmetry.

DNAL1 is also known as C14orf168, CILD16, LC1.

Associated Diseases


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