Human ATP Binding Cassette Transporter A3 (ABCA3) Protein

Background

ABCA3 is a critical protein in pulmonary surfactant production, predominantly expressed in alveolar type II epithelial cells in the lungs. It plays an essential role in transporting phospholipids and cholesterol into lamellar bodies, which are specialized organelles where surfactant is stored before secretion. ABCA3 utilizes ATP hydrolysis to facilitate lipid transport, ensuring the proper composition and function of surfactant, which reduces surface tension in the alveoli and prevents lung collapse. Mutations in the ABCA3 gene are associated with surfactant metabolism disorders, including neonatal respiratory distress syndrome and interstitial lung disease. These conditions are characterized by impaired surfactant production, leading to respiratory failure. ABCA3’s function in lipid transport and its critical role in pulmonary physiology underscore its importance in respiratory health.