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Details on Person Defective SRD5A3 does not reduce pPNOL to DCHOL

Class:Id	FailedReaction:4755572
_displayName	Defective SRD5A3 does not reduce pPNOL to DCHOL
_doRelease	TRUE
_timestamp	2025-01-30 19:44:21
authored	[InstanceEdit:4755549] Jassal, B, 2013-10-25
catalystActivity	[CatalystActivity:9631858] oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor of SRD5A3 mutants [endoplasmic reticulum membrane]
compartment	[Compartment:12045] endoplasmic reticulum membrane [Compartment:70101] cytosol [Compartment:5263266] cytoplasmic side of endoplasmic reticulum membrane
created	[InstanceEdit:4755549] Jassal, B, 2013-10-25
disease	[Disease:3781892] congenital disorder of glycosylation type I
edited	[InstanceEdit:4755549] Jassal, B, 2013-10-25
entityFunctionalStatus	[EntityFunctionalStatus:4755608] loss_of_function of SRD5A3 mutants [endoplasmic reticulum membrane]
input	[SimpleEntity:4419981] pPNOL [cytoplasmic side of endoplasmic reticulum membrane] [SimpleEntity:29364] NADPH [cytosol]
isChimeric	FALSE
literatureReference	[LiteratureReference:4420042] Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3 [LiteratureReference:4420007] SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder [LiteratureReference:4420017] SRD5A3-CDG: a patient with a novel mutation [LiteratureReference:4755578] A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family [LiteratureReference:4755571] An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4
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 [InstanceEdit:9910684] D'Eustachio, Peter, 2024-05-16 [InstanceEdit:9937336] D'Eustachio, Peter, 2025-01-30
name	Defective SRD5A3 does not reduce pPNOL to DCHOL
normalReaction	[Reaction:9937295] SRD5A3 reduces polyprenal to dolichal [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:5695934] R-HSA-4755572.5
summation	[Summation:4755595] Polyprenol reductase (SRD5A3), resident on the endoplasmic r...
(hasEvent)	[Pathway:4755579] Defective SRD5A3 causes SRD5A3-CDG, KHRZ [Homo sapiens]
(updatedInstance)	[_UpdateTracker:9777982] Update Tracker - [FailedReaction:4755572] Defective SRD5A3 does not reduce pPNOL to DCHOL - v68:[addCatalystActivity]
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