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

Stable Identifier
R-HSA-5688025
Type
Reaction [transition]
Species
Homo sapiens
Compartment
endoplasmic reticulum membrane
ReviewStatus
5/5
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Defective pro-SFTPB does not translocate from ER membrane to multivesicle body
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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

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

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

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

Hum. Mutat. 1999
Participants
Input
Participates
as an event of
Normal reaction
pro-SFTPB translocates from ER membrane to multivesicle body (Homo sapiens)
Functional status

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

Normal Entity
Disease Entity
Status
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
interstitial lung disease DOID:3082 ILD
Cross References
Mondo
Authored
Jassal, B  (2015-04-13)
Reviewed
D'Eustachio, P  (2015-08-17)
Created
Jassal, B  (2015-04-13)
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