DNAL4 Chromosome 22

Dynein axonemal light chain 4
1 variant 1 Health Risk

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What This Gene Does
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. [provided by RefSeq, Dec 2014]
Gene Info
Gene Group
Dyneins, axonemal outer arm complex subunits
Locus Type
gene with protein product
Location
22q13.1
Ensembl
ENSG00000100246
Associated Conditions (1)
Mirror movements 3
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS606231254 Health Risk Pathogenic Mirror movements 3, Mirror movements 3
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