Defective SFTPA2 does not translocate from ER membrane to extracellular region

Stable Identifier
R-HSA-5687875
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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). Mutations that cause IPF are G231V and F198S (Wang et al. 2009).

Literature References
PubMed ID Title Journal Year
19100526 Genetic defects in surfactant protein A2 are associated with pulmonary fibrosis and lung cancer

Wang, Y, Kuan, PJ, Xing, C, Cronkhite, JT, Torres, F, Rosenblatt, RL, DiMaio, JM, Kinch, LN, Grishin, NV, Garcia, CK

Am. J. Hum. Genet. 2009
Participants
Participant Of
Normal reaction
Disease
Name Identifier Synonyms
idiopathic pulmonary fibrosis 0050156 IDIOPATHIC PULMONARY FIBROSIS, FAMILIAL, FIBROCYSTIC PULMONARY DYSPLASIA, cryptogenic fibrosing alveolitis
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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