DISEASES

Disease-gene associations mined from literature

Literature associating DNAL1 and biliary dyskinesia

DNAL1 [ENSP00000452037]

Dynein, axonemal, light chain 1; 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.

Synonyms:  DNAL1,  DNAL1p,  hDNAL1,  G3V2M0,  G3V389 ...

Linkouts:  STRING  Pharos  UniProt  OMIM