Defective ABCA3 causes pulmonary surfactant metabolism dysfunction 3 (SMDP3)

Stable Identifier
R-HSA-5688399
Type
Pathway
Species
Homo sapiens
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ATP-binding cassette sub-family A member 3 (ABCA3) plays an important role in the formation of pulmonary surfactant, probably by transporting phospholipids such as phosphatidylcholine (PC) and phosphatidylglycerol (PG) from the ER membrane to lamellar bodies (LBs). PC and PG are the major phospholipid constituents of pulmonary surfactant. LBs are the surfactant storage organelles of type II epithelial cells from where phospholipids can be secreted together with surfactant proteins (SFTPs) into the alveolar airspace. Defects in ABCA3 can cause pulmonary surfactant metabolism dysfunction type 3 (SMDP3; MIM:610921), resulting in respiratory distress in newborns and interstitial lung disease (ILD) in children (Whitsett et al. 2015).

Literature References
PubMed ID Title Journal Year
25621661 Diseases of pulmonary surfactant homeostasis

Whitsett, JA, Wert, SE, Weaver, TE

Annu Rev Pathol 2015
Participants
Participant Of
Disease
Name Identifier Synonyms
interstitial lung disease 3082 ILD
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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