Reactome | Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome

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Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome Show undefined attributes

authored	[InstanceEdit:5678417] Jassal, Bijay, 2015-02-24
created	[InstanceEdit:5678417] Jassal, Bijay, 2015-02-24
crossReference	[DatabaseIdentifier:12020969] Mondo:0018054
dbId	5678420
disease	[Disease:5678419] dilated cardiomyopathy [Disease:5678510] familial atrial fibrillation [Disease:3656241] osteochondrodysplasia [Disease:5678508] hypertrichosis
displayName	Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome
edited	[InstanceEdit:5678417] Jassal, Bijay, 2015-02-24
eventOf	[Pathway:R-HSA-5619084] ABC transporter disorders - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-5678418] Defective ABCC9 (in KCNJ11:ABCC9) does not transport K+ from extracellular region to cytosol - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2019-03-25
literatureReference	[LiteratureReference:5678259] Reconstituted human cardiac KATP channels: functional identity with the native channels from the sarcolemma of human ventricular cells [LiteratureReference:5678266] A mutation in the ATP-binding site of the Kir6.2 subunit of the KATP channel alters coupling with the SUR2A subunit [LiteratureReference:5678439] ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating [LiteratureReference:5678481] KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation [LiteratureReference:5678426] Cant� syndrome is caused by mutations in ABCC9 [LiteratureReference:5678441] Dominant missense mutations in ABCC9 cause Cant� syndrome
maxDepth	2
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome Defective ABCC9 causes dilated cardiomyopathy 10, familial atrial fibrillation 12 and hypertrichotic osteochondrodysplasia
normalPathway	[Pathway:R-HSA-382556] ABC-family protein mediated transport
releaseDate	2015-06-17
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5690296] Moitra, Karobi, 2015-04-28
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-5678420
summation	[Summation:5678450] ATP-binding cassette sub-family C member 9 (ABCC9) forms car...
updateTrackers	[UpdateTracker:9778119] Update Tracker - [Pathway:5678420] Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome - v68:[updateContainedRLE] [UpdateTracker:9779945] Update Tracker - [Pathway:5678420] Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome - v64:[updateContainedRLE]

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(updatedInstance)	[UpdateTracker:9778119] Update Tracker - [Pathway:5678420] Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome - v68:[updateContainedRLE] [UpdateTracker:9779945] Update Tracker - [Pathway:5678420] Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome - v64:[updateContainedRLE]
(hasEvent)	[Pathway:R-HSA-5619084] ABC transporter disorders

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