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Target intelligence / Profile preview
Dynein axonemal assembly factor 2 (DNAAF2)
- Target
- DNAAF2
- Molecular classification
- Assembly factor (PIH1 family), Other (axonemal dynein assembly factor—not an enzyme, receptor, channel, or transporter, but a cytoplasmic cofactor required for complex assembly)
01
Overview
Dynein axonemal assembly factor 2 (DNAAF2) is a highly conserved cytoplasmic protein essential for the pre-assembly of dynein arm complexes, which generate motile force in cilia and flagella. DNAAF2 facilitates the correct stabilization and formation of inner and outer axonemal dynein arms before their transport into the ciliary compartment, governing normal mucociliary clearance, left–right body asymmetry, and sperm motility. Loss-of-function mutations in DNAAF2 disrupt dynein arm assembly and ciliary motility, causing primary ciliary dyskinesia, characterized by chronic respiratory issues, defects in organ placement, and infertility. DNAAF2 belongs to the PIH1 family and its dysfunction highlights its therapeutic relevance for disorders of ciliary motility.
- Other names
- Protein kintounKTUC14orf104PF13FLJ10563CILD10Dynein assembly factor 2, axonemalkintoun
02
Mechanism of action
Not explicitly documented for drug intervention; theoretically, any therapy would restore DNAAF2's function in dynein arm pre-assembly
03
Biological functions
Preassembly of axonemal dynein motor complexesCiliary and flagellar motilityStabilization and organization of dynein subunits in the cytoplasmCilia biogenesisProper mucociliary clearanceRegulation of left–right axis patterning during embryogenesisSperm motility
04
Disease associations
Primary ciliary dyskinesia (PCD, especially type 10)Respiratory distress (as a consequence of PCD)Laterality defects (situs inversus, heterotaxy)Infertility (male, due to impaired sperm flagella function)Other disorders involving ciliary malfunction
05
Safety considerations
No direct drug safety concerns documented, but gene knockout or dysfunction causes embryonic lethality in animal models and major organ system defects
06
Biomarkers
DNAAF2 gene mutation (diagnostic for primary ciliary dyskinesia subtype)Ciliary motility assessment (functional biomarker for disease)
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