Gene: DNAL1

Alternate names for this Gene: C14orf168|CILD16|LC1

Gene Summary: 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.

Gene is located in Chromosome: 14

Location in Chromosome : 14q24.3

Description of this Gene: dynein axonemal light chain 1

Type of Gene: protein-coding

rs387907021 in DNAL1 gene and CILIARY DYSKINESIA, PRIMARY, 16 PMID 21496787 2011 Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

rs387907021 in DNAL1 gene and Ciliary Dyskinesia, Primary, 1, With Or Without Situs Inversus PMID 21496787 2011 Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

rs876657637 in DNAL1 gene and Ciliary Motility Disorders PMID 21496787 2011 Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.

rs45508195 in DNAL1 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.