Novel insights into congenital surfactant dysfunction disorders by in silico analysis of ABCA3 proteins

Abstract

Surfactants produced by type II alveolar epithelial cells (AT2 cells) are usually present in inclusion organelles called lamellar bodies (LBs). The ATP-binding cassette subfamily A member 3 (ABCA3) transporter primarily exists in AT2 cells and is generally considered to be one of the critical regulators of biogenesis of LBs and surfactant metabolism in the lungs [1,2,3,4]. ABCA3 mutations are the most common cause of congenital surfactant dysfunction disorders (CSDDs), resulting in fatal neonatal respiratory distress and pediatric or adult interstitial lung disease [3, 5,6,7].