DNAL4 Gene - Dynein Axonemal Light Chain 4
Essential Component of Axonemal Dynein Complex in Ciliary Motility
Gene Information Card
| Symbol | DNAL4 |
|---|---|
| Full Name | Dynein Axonemal Light Chain 4 |
| Gene Type | Protein coding |
| Chromosomal Location | 22q13.1 |
| NCBI Gene ID | 10126 ncbi.nlm.nih.gov/gene/10126 |
| Ensembl ID | ENSG00000100246 |
| UniProt ID | O96015 |
| OMIM ID | 610706 |
| HGNC ID | 2955 |
| Aliases | PCD19, CILD19, dynein light chain 4, axonemal |
Description
DNAL4 encodes a light chain component of the axonemal dynein complex, which is essential for ciliary and flagellar motility. The protein interacts with the dynein heavy chain and contributes to the generation of force for microtubule sliding. Mutations in DNAL4 are associated with primary ciliary dyskinesia (PCD), a disorder characterized by impaired mucociliary clearance, chronic respiratory infections, and often situs inversus.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Primary Ciliary Dyskinesia 19 (CILD19) | Loss-of-function mutations impair dynein arm assembly, disrupting ciliary beat frequency and waveform. | ClinVar, OMIM |
| Primary Ciliary Dyskinesia with Situs Inversus (Kartagener Syndrome) | Defective ciliary motility during embryonic development leads to random left-right asymmetry. | OMIM, PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Lung | 8.7 | Medium |
| Trachea | 7.5 | Medium |
| Fallopian Tube | 6.9 | Low |
| Brain (cerebellum) | 2.1 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| hTERT-RPE1 | 15.2 | Ciliated retinal pigment epithelial cells |
| BEAS-2B | 10.5 | Bronchial epithelial cells |
| A549 | 6.8 | Lung carcinoma cells |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.335G>A (p.Arg112His) | Missense | Rare | Reduced dynein arm assembly; associated with PCD |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression; PCD |
| c.238_239delCT (p.Leu80Valfs*2) | Frameshift | Rare | Premature truncation; loss of function |
Mutation functional classification
Loss of Function (LOF)
Most DNAL4 mutations are loss-of-function, leading to defective axonemal dynein assembly and impaired ciliary motility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported; inheritance is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • axonemal dynein complex (GO:0005858) | • microtubule-based movement (GO:0007018) |
| • dynein complex (GO:0030286) | • cilium movement (GO:0003341) |
| • microtubule (GO:0005874) |
Pathways
• KEGG: hsa04540 - Gap junction
• Reactome: R-HSA-5620920 - Cargo trafficking to the periciliary membrane
• Reactome: R-HSA-5617833 - Cilium Assembly
Protein Summary
DNAL4 encodes a 22 kDa light chain protein (196 amino acids) that localizes to the axonemal dynein complex in cilia and flagella. It contains a conserved dynein light chain domain and is essential for stabilizing the dynein heavy chain and regulating motor activity. The protein is highly expressed in tissues with motile cilia, such as the respiratory tract, fallopian tubes, and sperm flagella.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| DNAL4 Knockout HEK293 Cell Line | EDJ-KQ6905 | Human | 10126 | Details Get a Quote |
| DNAL4 Knockout A-549 Cell Line | EDJ-KQ31530 | Human | 10126 | Details Get a Quote |
| DNAL4 Knockout HCT 116 Cell Line | EDJ-KQ31531 | Human | 10126 | Details Get a Quote |
| DNAL4 Knockout HeLa Cell Line | EDJ-KQ31532 | Human | 10126 | Details Get a Quote |
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