ABCA3 gene | definition of ABCA3 gene by Medical dictionary
ABCA3 gene A gene that codes for a 1704-amino-acid protein found in the limiting membrane of lamellar bodies. Mutations of this gene cause fatal SURFACTANT deficience in newborn babies.
Collins Dictionary of Medicine © Robert M. Youngson 2004, 2005
References in periodicals archive
(7) The ABCA3 gene encodes a lipid transporter expressed mainly on the limiting membrane of lamellar bodies in type II pneumocytes, the site of surfactant processing and storage.
ABCA3 gene mutations in newborns with fatal surfactant deficiency.