ABCA3 deficiency: neonatal respiratory failure and interstitial lung disease

Semin Perinatol. 2006 Dec;30(6):327-34. doi: 10.1053/j.semperi.2005.12.001.


ABCA3 is a member of the ATP Binding Cassette family of proteins, transporters that hydrolyze ATP in order to move substrates across biological membranes. Mutations in the gene encoding ABCA3 have been found in children with severe neonatal respiratory disease and older children with some forms of interstitial lung disease. This review summarizes current knowledge concerning clinical, genetic, and pathologic features of the lung disease associated with mutations in the ABCA3 gene, and also briefly reviews some other forms of childhood interstitial lung diseases that have their antecedents in the neonatal period and may also have a genetic basis.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • ATP-Binding Cassette Transporters / genetics
  • ATP-Binding Cassette Transporters / metabolism*
  • Humans
  • Infant
  • Infant, Newborn
  • Lung / metabolism
  • Lung / pathology
  • Lung / ultrastructure
  • Lung Diseases, Interstitial / genetics
  • Lung Diseases, Interstitial / metabolism*
  • Lung Diseases, Interstitial / pathology
  • Microscopy, Electron
  • Models, Biological
  • Mutation*
  • Respiratory Distress Syndrome, Newborn / genetics
  • Respiratory Distress Syndrome, Newborn / metabolism*
  • Respiratory Distress Syndrome, Newborn / pathology


  • ABCA3 protein, human
  • ATP-Binding Cassette Transporters