Open AccessABCA3 Mutations Associated with Pediatric Interstitial Lung Disease
Author(s) -
Janine E. Bullard,
Susan E. Wert,
Jeffrey A. Whitsett,
Michael Dean,
Lawrence M. Nogee
Publication year - 2005
Publication title -
american journal of respiratory and critical care medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.272
H-Index - 374
eISSN - 1535-4970
pISSN - 1073-449X
DOI - 10.1164/rccm.200503-504oc
Subject(s) - interstitial lung disease , missense mutation , medicine , lung , pneumonitis , mutation , pathology , gene mutation , gene , genetics , biology
ABCA3 is a member of the ATP-binding cassette family of proteins that mediate the translocation of a wide variety of substrates, including lipids, across cellular membranes. Mutations in the gene encoding ABCA3 were recently identified in full-term neonates with fatal surfactant deficiency.