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Details on Person Defective IKBKG (NEMO) destabilizes the association of IKBKA:IKBKB:IKBKG (via TLR)

Class:Id	FailedReaction:5262921
_displayName	Defective IKBKG (NEMO) destabilizes the association of IKBKA:IKBKB:IKBKG (via TLR)
_doRelease	TRUE
_timestamp	2018-02-13 02:41:40
authored	[InstanceEdit:5545427] Shamovsky, V, 2014-05-21
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:5262932] Shamovsky, V, 2014-02-09
disease	[Disease:5228860] primary immunodeficiency disease
edited	[InstanceEdit:5673719] Shamovsky, Veronica, 2015-02-09
entityFunctionalStatus	[EntityFunctionalStatus:5263001] loss_of_function of TLR associated IKBKG variants [cytosol]
input	[EntityWithAccessionedSequence:168104] CHUK [cytosol] [Homo sapiens] [DefinedSet:5262931] TLR associated IKBKG variants [cytosol] [Homo sapiens] [EntityWithAccessionedSequence:168114] IKBKB [cytosol] [Homo sapiens]
isChimeric	FALSE
literatureReference	[LiteratureReference:5262960] X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling [LiteratureReference:5607891] Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation [LiteratureReference:5262985] Two-sided ubiquitin binding of NF-?B essential modulator (NEMO) zinc finger unveiled by a mutation associated with anhidrotic ectodermal dysplasia with immunodeficiency syndrome
modified	[InstanceEdit:5607984] Shamovsky, Veronica, 2014-07-14 [InstanceEdit:5627005] Shamovsky, Veronica, 2014-10-14 [InstanceEdit:5627589] Shamovsky, Veronica, 2014-10-20 [InstanceEdit:5633254] Matthews, Lisa, 2014-10-31 [InstanceEdit:5635723] Shamovsky, Veronica, 2014-11-07 [InstanceEdit:5643753] Shamovsky, Veronica, 2014-11-17 [InstanceEdit:5675065] Shamovsky, Veronica, 2015-02-15 [InstanceEdit:5675793] Shamovsky, Veronica, 2015-02-16 [InstanceEdit:9036891] Shamovsky, Veronica, 2018-02-13 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective IKBKG (NEMO) destabilizes the association of IKBKA:IKBKB:IKBKG (via TLR)
normalReaction	[Reaction:5609665] CHUK, IKBKB and IKBKG form IKK complex [Homo sapiens]
releaseDate	2015-03-19
reviewed	[InstanceEdit:5621924] D'Eustachio, Peter, 2014-09-06 [InstanceEdit:5675062] McDonald, Douglas R, 2015-02-15
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:5679856] R-HSA-5262921.3
summation	[Summation:5262969] A group of hypomorphic IKBKG (NEMO) mutations has been assoc...
systematicName	Defective TLR associated IKBKG variants do not phosphorylate IkBs:NFkB
(hasEvent)	[Pathway:5603027] IKBKG deficiency causes anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID) (via TLR) [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9779691] Update Tracker - [FailedReaction:5262921] Defective IKBKG (NEMO) destabilizes the association of IKBKA:IKBKB:IKBKG (via TLR) - v64:[add_removeInput, modifyText, removeCatalystActivity] [_UpdateTracker:9846871] Update Tracker - [FailedReaction:5262921] Defective IKBKG (NEMO) destabilizes the association of IKBKA:IKBKB:IKBKG (via TLR) - v83:[modifyText]
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