ABCA3 Gene
ATP Binding Cassette Subfamily A Member 3 (ABCA3) is a gene involved in lamellar body formation / surfactant secretion that has been studied in relation to immune function, metabolism, and chronic illness. Variants in ABCA3 may influence how the body responds to infection, inflammation, and long-term recovery.
This page is for educational and informational purposes only. Not a diagnostic tool. Always consult a qualified healthcare provider.
What is the ABCA3 gene?
ABCA3 encodes atp binding cassette subfamily a member 3, a protein involved in lamellar body formation / surfactant secretion. It belongs to the Respiratory category and is part of the Respiratory & Lung Function biological cluster. ABCA3 encodes a lipid transporter essential for lamellar body formation and surfactant phospholipid secretion in alveolar type II cells.
Biological role and pathway
ABCA3 is involved in the lamellar body formation / surfactant secretion pathway, which plays a central role in regulating physiological processes relevant to immune defence, cellular energy, and systemic homeostasis. Genes within the Respiratory & Lung Function cluster work together to maintain balanced function across interconnected biological systems.
Variants in genes within this pathway may influence an individual's predisposition to altered function in these systems — particularly under conditions of physiological stress such as viral infection or prolonged illness.
ABCA3 and Long COVID / ME-CFS research
ABCA3 mutations cause neonatal respiratory distress and ILD; variants may affect surfactant lipid composition and alveolar stability, influencing pulmonary recovery in Long COVID.
This information is based on published research and does not constitute medical advice. See references below.
Known genetic variants
The following variants (SNPs) in the ABCA3 gene have been studied in relation to respiratory and chronic illness. Each variant represents a single nucleotide position where individuals may carry different alleles.
- rs13333226— ABCA3 variant
Conditions studied in relation to ABCA3
Research into ABCA3 variants has explored associations with the following conditions. These are areas of scientific investigation and do not imply that ABCA3 causes or treats any condition.
Genetic insights from DNA data
Consumer DNA files from 23andMe, AncestryDNA, and MyHeritage contain raw SNP data. When you upload your file to ChronicDNA, the analysis engine checks your genotype against a curated panel of 80+ genes selected for their relevance to Long COVID, ME/CFS, and connected biological pathways - some of which may include ABCA3 and related genes in the respiratory & lung function pathway.
The report is educational - it explains which variants you carry, what the research says about them, and how they fit into the biological pathways most relevant to chronic illness. Results are presented in plain English with appropriate scientific context, no medical jargon, no scare tactics. All results should be discussed with a qualified healthcare provider.
Related genes in the Respiratory & Lung Function pathway
ABCA3 does not act in isolation. The following genes are functionally related and may be analysed together for a more complete picture of your genetic predispositions.
Frequently asked questions
What is the ABCA3 gene and what does it do?
ABCA3 (ATP Binding Cassette Subfamily A Member 3) is involved in lamellar body formation / surfactant secretion. ABCA3 encodes a lipid transporter essential for lamellar body formation and surfactant phospholipid secretion in alveolar type II cells.
How may ABCA3 gene variants relate to Long COVID or ME/CFS?
ABCA3 mutations cause neonatal respiratory distress and ILD; variants may affect surfactant lipid composition and alveolar stability, influencing pulmonary recovery in Long COVID.
Can a DNA test reveal information about my ABCA3 gene?
Consumer DNA data from 23andMe, AncestryDNA, and MyHeritage includes SNP variants for many genes. ChronicDNA analyses your raw DNA file and reports on variants that have been studied in relation to chronic illness, immune function, and metabolism. This is not a diagnostic service — results are informational and educational only.
Explore your ABCA3 genetic insights
Upload your DNA data from 23andMe, AncestryDNA, or MyHeritage and receive a personalised report covering >80 genes relevant to Long COVID and ME/CFS.
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References
The following publications were used in compiling the research context for ABCA3. This is not an exhaustive literature review.
- [1]PMID: 33141942
- [2]Nature Genetics
- [3]NEJM