Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)

Stable Identifier
R-HSA-5688849
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Pathway
Species
Homo sapiens
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Surfactant catabolism by alveolar macrophages plays a small but critical part in surfactant recycling and metabolism. Upon ligand binding, granulocyte-macrophage colony-stimulating factor receptor (GM-CSFR), a heterodimer of alpha (CSF2RA) and beta (CSF2RB) subunits, initiates a signalling process that not only induces proliferation, differentiation and functional activation of hematopoietic cells but can also determine surfactant uptake into alveolar macrophages and its degradation via clathrin-coated vesicles. Defects in human CSF2RB can cause pulmonary surfactant metabolism dysfunction 5 (SMDP5; MIM:614370, aka pulmonary alveolar proteinosis 5, PAP5), a rare lung disorder due to impaired surfactant homeostasis characterised by alveoli filling with floccular material causing respiratory failure (Greenhill & Kotton 2009, Whitsett et al. 2015).

Literature References
PubMed ID Title Journal Year
19666756 Pulmonary alveolar proteinosis: a bench-to-bedside story of granulocyte-macrophage colony-stimulating factor dysfunction

Greenhill, SR, Kotton, DN

Chest 2009
25621661 Diseases of pulmonary surfactant homeostasis

Whitsett, JA, Wert, SE, Weaver, TE

Annu Rev Pathol 2015
Participants
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Disease
Name Identifier Synonyms
pulmonary alveolar proteinosis 12120
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