Defective pro-SFTPB does not translocate from ER membrane to multivesicle body

Stable Identifier
Reaction [transition]
Homo sapiens
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Surfactant proteins (SFTPs) are trafficked from the ER membrane to lamellar bodies (LBs) via the multi-vesicle body (MVB). The pro-SFTPs B and C are cleaved to produce functional SFTPs. Absence of proSFTPB and mature SFTPB proteins are associated with nonsense and frame-shift mutations in the SFTPB gene. These defects can cause pulmonary surfactant metabolism dysfunction 1 (SMDP1; MIM:265120), a rare lung disorder due to impaired surfactant homeostasis characterised by alveoli filling with floccular material. Excessive lipoprotein accumulation in the alveoli results in a form of respiratory distress syndrome in premature infants (RDS; MIM:267450). A common mutation causing RDS is a frameshift mutation consisting of a substitution of GAA for C in codon 121 (Nogee et al. 1994). Another frameshift mutation causing RDS is 457delC (Tredano et al. 1999).

Literature References
PubMed ID Title Journal Year
8163685 A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds

Garnier, G, Nogee, LM, Murphy, AM, Colten, HR, deMello, DE, Dietz, HC, Singer, L

J. Clin. Invest. 1994
10571948 Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency

Bahuau, M, Zimmermann, LJ, Tredano, M, Hull, WM, van Elburg, RM, Kaspers, AG, Griese, M, Houdayer, C, Elion, J, Whitsett, JA, Aymard, P

Hum. Mutat. 1999
Normal reaction
Functional status

Loss of function of pro-SFTPB mutants [endoplasmic reticulum membrane]

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
interstitial lung disease DOID:3082 ILD
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