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Details on Person Defective DHDDS does not elongate E,E-FPP

Class:Id	FailedReaction:4755545
_displayName	Defective DHDDS does not elongate E,E-FPP
_doRelease	TRUE
_timestamp	2015-05-25 03:54:09
authored	[InstanceEdit:4755549] Jassal, B, 2013-10-25
catalystActivity	[CatalystActivity:9631910] transferase activity, transferring alkyl or aryl (other than methyl) groups of DHDDS K42E:NUS1 [endoplasmic reticulum membrane]
compartment	[Compartment:12045] endoplasmic reticulum membrane [Compartment:70101] cytosol
created	[InstanceEdit:4755549] Jassal, B, 2013-10-25
disease	[Disease:2471728] retinitis pigmentosa
edited	[InstanceEdit:4755549] Jassal, B, 2013-10-25
entityFunctionalStatus	[EntityFunctionalStatus:4755550] loss_of_function of DHDDS K42E:NUS1 [endoplasmic reticulum membrane]
input	[SimpleEntity:4419987] E,E-FPP [cytosol] [SimpleEntity:191362] IPPP [cytosol] [SimpleEntity:191362] IPPP [cytosol] [SimpleEntity:191362] IPPP [cytosol] [SimpleEntity:191362] IPPP [cytosol] [SimpleEntity:191362] IPPP [cytosol] [SimpleEntity:191362] IPPP [cytosol] [SimpleEntity:191362] IPPP [cytosol] [SimpleEntity:191362] IPPP [cytosol] [SimpleEntity:191362] IPPP [cytosol] [SimpleEntity:191362] IPPP [cytosol] [SimpleEntity:191362] IPPP [cytosol] [SimpleEntity:191362] IPPP [cytosol] [SimpleEntity:191362] IPPP [cytosol] [SimpleEntity:191362] IPPP [cytosol] [SimpleEntity:191362] IPPP [cytosol] [SimpleEntity:191362] IPPP [cytosol] [SimpleEntity:191362] IPPP [cytosol] [SimpleEntity:191362] IPPP [cytosol] [SimpleEntity:191362] IPPP [cytosol] [SimpleEntity:191362] IPPP [cytosol]
isChimeric	FALSE
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 [LiteratureReference:4755565] A missense mutation in DHDDS, encoding dehydrodolichyl diphosphate synthase, is associated with autosomal-recessive retinitis pigmentosa in Ashkenazi Jews
modified	[InstanceEdit:5083143] Jassal, B, 2013-11-05 [InstanceEdit:5671966] Jassal, Bijay, 2015-02-03 [InstanceEdit:5690643] Jassal, Bijay, 2015-04-30 [InstanceEdit:9631717] Wu, G, 2018-12-12 [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective DHDDS does not elongate E,E-FPP
normalReaction	[Reaction:4419978] DHDDS:NUS1 elongates E,E-FPP with (n)IPPP to form pPPP [Homo sapiens]
releaseDate	2015-06-17
releaseStatus	NEW
reviewed	[InstanceEdit:5690642] Spillmann, Dorothe, 2015-04-30
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:5695933] R-HSA-4755545.3
summation	[Summation:4755553] The ER membrane-associated enzyme dehydrodolichyl diphosphat...
(hasEvent)	[Pathway:4755609] Defective DHDDS causes RP59 [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9778442] Update Tracker - [FailedReaction:4755545] Defective DHDDS does not elongate E,E-FPP - v68:[addCatalystActivity]
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