Reactome | Defective visual phototransduction due to OPN1LW loss of function

Schema > Pathway > Entries

authored	[InstanceEdit:2466812] Jassal, Bijay, 2012-09-12
created	[InstanceEdit:9918437] Orlic-Milacic, Marija, 2024-08-15
crossReference	[DatabaseIdentifier:12020954] Mondo:0001703
dbId	9918450
disease	[Disease:9918439] color blindness
displayName	Defective visual phototransduction due to OPN1LW loss of function
edited	[InstanceEdit:9918451] Orlic-Milacic, Marija, 2024-08-15
eventOf	[Pathway:R-HSA-2453864] Retinoid cycle disease events - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-2466822] Defective OPN1LW does not bind 11cRAL - Homo sapiens
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:2471633] X-linked cone dystrophy caused by mutation of the red and green cone opsins [LiteratureReference:2471709] Novel missense mutations in red/green opsin genes in congenital color-vision deficiencies
maxDepth	2
modified	[InstanceEdit:9918474] Orlic-Milacic, Marija, 2024-08-15
name	Defective visual phototransduction due to OPN1LW loss of function
normalPathway	[Pathway:R-HSA-2187338] Visual phototransduction
releaseDate	2024-09-11
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:9918445] Matthews, Lisa, 2024-08-15
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-9918450
summation	[Summation:9918455] Blue cone monochromatism (BCM) is a rare X-linked congenital...

(hasEvent)

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