Defective CSF2RB causes SMDP5

Stable Identifier
R-HSA-5688849
Type
Pathway
Species
Homo sapiens
Synonyms
Defective CSF2RB causes pulmonary surfactant metabolism dysfunction 5 (SMDP5)
ReviewStatus
5/5
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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
25621661 Diseases of pulmonary surfactant homeostasis

Whitsett, JA, Weaver, TE, Wert, SE

Annu Rev Pathol 2015
19666756 Pulmonary alveolar proteinosis: a bench-to-bedside story of granulocyte-macrophage colony-stimulating factor dysfunction

Kotton, DN, Greenhill, SR

Chest 2009
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