ABCA3
Respiratory System · Alveolar Surfactant Metabolism
Why do lung air sacs need a specialized fat-and-protein mixture?
ABCA3 makes a transporter involved in producing surfactant, which helps prevent air sacs from collapsing after exhalation. This reduces the effort needed to reinflate the lungs.
- Common Gene Name
- ATP binding cassette subfamily A member 3
- NCBI Gene ID
- 21
- Chromosome
- 16
Clinical Evidence Status
Established disease relationship
These labels describe available evidence about a gene. They do not classify your variant or recommend a treatment.
Answer Sources
Explore supporting evidence (3 records)
| Condition or drug | Evidence | Grade / status | Context | Source |
|---|---|---|---|---|
| interstitial lung disease due to ABCA3 deficiency | ClinGen gene-disease validity | Definitive | Autosomal recessive | View source 2024-09-17 |
| Idiopathic pulmonary fibrosis | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2012-07 | |
| Surfactant dysfunction | MedlinePlus related condition | Association type varies; no grade assigned here | View source 2012-07 |
Source snapshot: 2026-09-09. Consumer text updated: 2026-09-10. Source dates describe the cited records, not a new clinical review.
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