Reactome | Defective STRA6 does not transport atROL

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Defective STRA6 does not transport atROL Show undefined attributes

authored	[InstanceEdit:2453822] Jassal, Bijay, 2012-08-17
category	transition
compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:2453822] Jassal, Bijay, 2012-08-17
crossReference	[DatabaseIdentifier:12020955] Mondo:0021129
dbId	2453818
disease	[Disease:2453812] microphthalmia
displayName	Defective STRA6 does not transport atROL
edited	[InstanceEdit:2453822] Jassal, Bijay, 2012-08-17
entityFunctionalStatus	[EntityFunctionalStatus:2453862] loss_of_function of TTR:RBP4:atROL:STRA6 mutants [plasma membrane]
eventOf	[Pathway:R-HSA-9918449] Defective visual phototransduction due to STRA6 loss of function - Homo sapiens
input	[Complex:R-HSA-9628705] TTR:RBP4:atROL:STRA6 mutants [plasma membrane]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:2453872] Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia [LiteratureReference:2453832] Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation [LiteratureReference:2453839] Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective STRA6 does not transport atROL
normalReaction	[Reaction:R-HSA-2453863] STRA6 transports atROL from extracellular region to cytosol
releaseDate	2013-03-12
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:3006584] Blaner, William S, 2013-01-31
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-2453818
summation	[Summation:2453831] Defects in STRA6 cause microphthalmia syndromic type 9 (MCOP...
updateTrackers	[UpdateTracker:9779729] Update Tracker - [FailedReaction:2453818] Defective STRA6 does not transport atROL - v64:[add_removeInput] [UpdateTracker:9778943] Update Tracker - [FailedReaction:2453818] Defective STRA6 does not transport atROL - v67:[add_removeInput]

Referrals

(updatedInstance)	[UpdateTracker:9779729] Update Tracker - [FailedReaction:2453818] Defective STRA6 does not transport atROL - v64:[add_removeInput] [UpdateTracker:9778943] Update Tracker - [FailedReaction:2453818] Defective STRA6 does not transport atROL - v67:[add_removeInput]
(hasEvent)	[Pathway:R-HSA-9918449] Defective visual phototransduction due to STRA6 loss of function

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