Reactome | Defective DHDDS causes RP59

Schema > Pathway > Entries

Defective DHDDS causes RP59 Show undefined attributes

authored	[InstanceEdit:4755549] Jassal, B, 2013-10-25
created	[InstanceEdit:4755549] Jassal, B, 2013-10-25
crossReference	[DatabaseIdentifier:12020880] Mondo:0019200
dbId	4755609
disease	[Disease:2471728] retinitis pigmentosa
displayName	Defective DHDDS causes RP59
edited	[InstanceEdit:4755549] Jassal, B, 2013-10-25
eventOf	[Pathway:R-HSA-5609975] Diseases associated with glycosylation precursor biosynthesis - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-4755545] Defective DHDDS does not elongate E,E-FPP - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2019-03-25
literatureReference	[LiteratureReference:4420021] Analysis of dolichol in human tissues by high pressure liquid chromatography [LiteratureReference:4419872] Identification and characterization of a cDNA encoding a long-chain cis-isoprenyltranferase involved in dolichyl monophosphate biosynthesis in the ER of brain cells [LiteratureReference:4419862] Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa [LiteratureReference:4755560] Identification of human dehydrodolichyl diphosphate synthase gene
maxDepth	2
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Defective DHDDS causes RP59 Defective DHDDS causes retinitis pigmentosa 59
normalPathway	[Pathway:R-HSA-446203] Asparagine N-linked glycosylation
releaseDate	2015-06-17
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5690642] Spillmann, Dorothe, 2015-04-30
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-4755609
summation	[Summation:4755570] The ER membrane-associated enzyme dehydrodolichyl diphosphat...
updateTrackers	[UpdateTracker:9778431] Update Tracker - [Pathway:4755609] Defective DHDDS causes RP59 - v68:[updateContainedRLE]

Referrals

(updatedInstance)	[UpdateTracker:9778431] Update Tracker - [Pathway:4755609] Defective DHDDS causes RP59 - v68:[updateContainedRLE]
(hasEvent)	[Pathway:R-HSA-5609975] Diseases associated with glycosylation precursor biosynthesis

Cite Us!