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Defective SFTPA2 causes IPF
Stable Identifier
R-HSA-5687868
Type
Pathway
Species
Homo sapiens
Synonyms
Defective SFTPA2 causes idiopathic pulmonary fibrosis (IPF)
ReviewStatus
5/5
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Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases associated with surfactant metabolism (Homo sapiens)
Defective SFTPA2 causes IPF (Homo sapiens)
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One function of the pulmonary collectins, surfactant proteins A1, A2, A3 and D (SFTPAs, D), is that they influence surfactant homeostasis, contributing to the physical structures of lipids in the alveoli and to the regulation of surfactant function and metabolism. They are directly secreted from alveolar type II cells into the airway to function as part of the surfactant. The mechanism of secretion is unknown. Mutations in SFTPA2 disrupt protein structure and the defective protein is retained in the ER membrane causing idiopathic pulmonary fibrosis (IPF; MIM:178500). IPF is one of a family of idiopathic pneumonias sharing clinical features of shortness of breath, formation of scar tissue and varying degrees of inflammation and/or fibrosis on lung biopsy. IPF is typically progressive, leading to death from respiratory failure within 2-5 years of diagnosis in the majority of instances (Meltzer & Noble 2008, Noble & Barkauskas 2012).
Literature References
PubMed ID
Title
Journal
Year
22850886
Pulmonary fibrosis: patterns and perpetrators
Noble, PW
,
Barkauskas, CE
,
Jiang, D
J. Clin. Invest.
2012
18366757
Idiopathic pulmonary fibrosis
Noble, PW
,
Meltzer, EB
Orphanet J Rare Dis
2008
Participants
Events
Defective SFTPA2 does not translocate from ER membrane to extracellular region
(Homo sapiens)
Participates
as an event of
Diseases associated with surfactant metabolism (Homo sapiens)
Disease
Name
Identifier
Synonyms
newborn respiratory distress syndrome
DOID: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
idiopathic pulmonary fibrosis
DOID:0050156
IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL, FIBROCYSTIC PULMONARY DYSPLASIA, cryptogenic fibrosing alveolitis
Authored
Jassal, B (2015-04-10)
Reviewed
D'Eustachio, P (2015-08-17)
Created
Jassal, B (2015-04-10)
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