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ABCA3 ATP-binding cassette subfamily A, member 3 is expressed in the lamellar bodies of alveolar type II cells and is critical to pulmonary surfactant storage and homeostasis.
ABCA3 mutations were identified in 10 out of 47 patients, including 2 homozygous, 5 compound heterozygous and 3 heterozygous patients. Functional studies of p. TR mutations revealed that p.
TR induced deviating lamellar bodies. TR increased IL-8 trickling in vitro. Two mutations associated with ILD acted via differential pathophysiological mechanisms despite equivalent clinical phenotypes. Pulmonary surfactant, a complex mixture of lipids and specific proteins located at the air—liquid interface, lowers alveolar materialize tension, thereby preventing alveolar collapse at the aimless of termination. It is synthesized at near alveolar type-II cells, stored in lamellar bodies and secreted not later than exocytosis.
Brand-new studies suggest a r�le for disparate genes in diffuse lung diseases 1 — 3. More lately, SFTPC mutations were reported in newborns and infants with brutal alveolar-interstitial syndrome 3 Banned, 5.
ABCA3 is a amino acid protein expressed selectively—but not specifically—in the lung, where it is found in the limiting membrane of lamellar bodies 1 Ban, 6 Verboten, 7.
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