Abstract: The ABCA3 gene, of the ABCA subclass of ATP binding cassette （ABC） transporters, is expressed
exclusively in lung and is located on chromosome 16p13.3. It spans over 80 000 nucleotide bases and is transcribed into an
approximately 6 500-bp mRNA, which directs the synthesis of a 1704-amino-acid protein of 190 kDa size. ABCA3 mediates the
translocation of a wide variety of substrates, including lipids, across cellular membranes. It does not only cause multidrug
resistance but also causes a neonatal respiratory distress syndrome and increase susceptibility to milder forms of
interstitial lung disease. ABCA3 variants might result deficiency or reduction of ABCA3 protein expression. Sometimes the
protein expressed in the correct amount and location, but does not function properly. These conditions may influence the
process and transportion of surfactant proteins B and C, break the pulmonary surfactant phospholipid homeostasis, and induce
to the neonatal lung diseases.

Key words: ABCA3, Newborn, Lamellar body, Lung disease