DNAL1 gene

dynein axonemal light chain 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes an axonemal dynein light chain which functions as a component of the outer dynein arms complex. This complex acts as the molecular motor that provides the force to move cilia in an ATP-dependent manner. The encoded protein is expressed in tissues with motile cilia or flagella and may be involved in the movement of sperm flagella. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Jan 2011]

Covered on Genetics Home Reference:

From NCBI Gene:

  • Ciliary dyskinesia, primary, 16

From UniProt:

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. [MIM:614017]

Cytogenetic Location: 14q24.3, which is the long (q) arm of chromosome 14 at position 24.3

Molecular Location: base pairs 73,644,875 to 73,703,728 on chromosome 14 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 14q24.3, which is the long (q) arm of chromosome 14 at position 24.3
  • C14orf168
  • CILD16