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.
References
Conditional Deletion of Abca3 in Alveolar Type II Cells Alters Surfactant Homeostasis in Newborn and Adult Mice. Besnard V, Matsuzaki Y, Clark JC, Xu Y, Wert SE, Ikegami M, Stahlman MT, Weaver TE, Hunt AN, Postle AD, Whitsett JA. Am J Physiol Lung Cell Mol Physiol. 2010 Feb 26. PMID: #20190032#
Expression of the lipid transporters ABCA3 and ABCA1 is diminished in human breast cancer tissue. Schimanski S, Wild PJ, Treeck O, Horn F, Sigruener A, Rudolph C, Blaszyk H, Klinkhammer-Schalke M, Ortmann O, Hartmann A, Schmitz G. Horm Metab Res. 2010 Feb;42(2):102-9. PMID: #19902402#
ABC transporter A3 facilitates lysosomal sequestration of imatinib and modulates susceptibility of chronic myeloid leukemia cell lines to this drug. Chapuy B, Panse M, Radunski U, Koch R, Wenzel D, Inagaki N, Haase D, Truemper L, Wulf GG. Haematologica. 2009 Nov;94(11):1528-36. PMID: #19880777#