ABCA3
MIM.601615 16p13.3
The lipid transporter ABCA3 targets surfactant phospholipids to lamellar bodies that are lysosomal-derived organelles of alveolar type II cells.
Pulmonary surfactant is essential to maintain alveolar patency, and invariably fatal neonatal lung disease has been recognized to involve mutations in the genes encoding surfactant protein-B (SP-B) or ATP-binding cassette transporter family member ABCA3.
Pathology
ABCA3 germline mutations in neonatal surfactant deficiency (MIM.267450)
- ABCA3-associated pulmonary diseases
- ABCA3-associated alveolar proteinosis
- ABCA3-associated unexplained neonatal respiratory distress (UNRD)
Animal models
ABCA3-/- mice have grossly reduced surfactant phosphatidyl glycerol levels and die of respiratory failure soon after birth.