Defective ABCA3 causes pulmonary surfactant metabolism dysfunction type 3 (SMDP3)

Stable Identifier
R-HSA-5683678
Type
Pathway
Species
Homo sapiens
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ATP-binding cassette sub-family A member 3 (ABCA3) is thought to play a role in the formation of pulmonary surfactant by transporting lipids such as cholesterol into lamellar bodies (LBs) in alveolar type II cells. In LBs, surfactant proteins and lipids are assembled into bilayer membranes that are secreted into the alveolar airspace, where they form a surface film at the air–liquid interface. Defects in ABCA3 can cause pulmonary surfactant metabolism dysfunction 3 (SMDP3), a usually fatal pulmonary disease in newborns, characterised by the absence of normal LBs and the presence of electron-dense inclusions within small vesicular structures. Loss of secretion of lipid pulmonary surfactants causes excessive lipoprotein accumulation in the alveoli resulting in severe respiratory distress (Shulenin et al. 2004, Quazi & Molday 2011, Tarling et al. 2014, Whitsett et al. 2015).

Literature References
PubMed ID Title Journal Year
23415156 Role of ABC transporters in lipid transport and human disease

Tarling, EJ, de Aguiar Vallim, TQ, Edwards, PA

Trends Endocrinol. Metab. 2013
25621661 Diseases of pulmonary surfactant homeostasis

Whitsett, JA, Wert, SE, Weaver, TE

Annu Rev Pathol 2015
21967062 Lipid transport by mammalian ABC proteins

Quazi, F, Molday, RS

Essays Biochem. 2011
15044640 ABCA3 gene mutations in newborns with fatal surfactant deficiency

Shulenin, S, Nogee, LM, Annilo, T, Wert, SE, Whitsett, JA, Dean, M

N Engl J Med 2004
Participants
Participant Of
Disease
Name Identifier Synonyms
newborn respiratory distress syndrome 12716 Neonatal respiratory Distress syndrome, hyaline membrane disease, HMD - Hyaline membrane disease, pulmonary hypoperfusion syndrome of newborn, respiratory distress syndrome of newborn, pulmonary hyaline membrane disease
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