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

Class:IdFailedReaction:5688025
_displayNameDefective pro-SFTPB does not translocate from ER membrane to multivesicle body
_doReleaseTRUE
_timestamp2019-01-11 14:45:20
authored[InstanceEdit:5688016] Jassal, Bijay, 2015-04-13
compartment[Compartment:12045] endoplasmic reticulum membrane
created[InstanceEdit:5688016] Jassal, Bijay, 2015-04-13
disease[Disease:5683679] newborn respiratory distress syndrome
[Disease:5688359] interstitial lung disease
edited[InstanceEdit:5688016] Jassal, Bijay, 2015-04-13
entityFunctionalStatus[EntityFunctionalStatus:5688395] loss_of_function of pro-SFTPB mutants [endoplasmic reticulum membrane]
input[DefinedSet:5688020] pro-SFTPB mutants [endoplasmic reticulum membrane] [Homo sapiens]
isChimericFALSE
literatureReference[LiteratureReference:5687998] A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds
[LiteratureReference:5688023] Compound SFTPB 1549C-->GAA (121ins2) and 457delC heterozygosity in severe congenital lung disease and surfactant protein B (SP-B) deficiency
modified[InstanceEdit:5688033] Jassal, Bijay, 2015-04-13
[InstanceEdit:5688034] Jassal, Bijay, 2015-04-13
[InstanceEdit:5688355] Jassal, Bijay, 2015-04-16
[InstanceEdit:5688387] Jassal, Bijay, 2015-04-16
[InstanceEdit:6791022] Jassal, Bijay, 2015-08-17
[InstanceEdit:9630202] Jassal, Bijay, 2018-11-30
[InstanceEdit:9634482] Jassal, Bijay, 2019-01-11
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
nameDefective pro-SFTPB does not translocate from ER membrane to multivesicle body
normalReaction
releaseDate2015-09-22
releaseStatusNEW
reviewed[InstanceEdit:6791021] D'Eustachio, Peter, 2015-08-17
reviewStatus[ReviewStatus:9821382] five stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:6797196] R-HSA-5688025.3
summation[Summation:5688012] Surfactant proteins (SFTPs) are trafficked from the ER membr...
(hasEvent)[Pathway:5688031] Defective pro-SFTPB causes SMDP1 and RDS [Homo sapiens]
(updatedInstance)[_UpdateTracker:9778130] Update Tracker - [FailedReaction:5688025] Defective pro-SFTPB does not translocate from ER membrane to multivesicle body - v68:[add_removeInput, modifyText]
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