DNAL1
Function
Part of the multisubunit axonemal ATPase complexes that generate the force for cilia motility and govern beat frequency (By similarity). Component of the outer arm dynein (ODA). May be involved in a mechanosensory feedback mechanism controlling ODA activity based on external conformational cues by tethering the outer arm dynein heavy chain (DNAH5) to the microtubule within the axoneme (By similarity). Important for ciliary function in the airways and for the function of the cilia that produce the nodal flow essential for the determination of the left-right asymmetry (PubMed:21496787).
Involvement in disease
Ciliary dyskinesia, primary, 16
CILD16
A disorder characterized by abnormalities of motile cilia. Respiratory infections leading to chronic inflammation and bronchiectasis are recurrent, due to defects in the respiratory cilia; reduced fertility is often observed in male patients due to abnormalities of sperm tails. Half of the patients exhibit randomization of left-right body asymmetry and situs inversus, due to dysfunction of monocilia at the embryonic node. Primary ciliary dyskinesia associated with situs inversus is referred to as Kartagener syndrome.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the dynein light chain LC1-type family.
Tissue Specificity
Expressed in tissues carrying motile cilia such as respiratory epithelia, ependyma and testis.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Cilium axoneme
Alternative names
C14orf168, DNAL1, Dynein axonemal light chain 1, LC1