Reactome | Defective SRD5A3 causes SRD5A3-CDG, KHRZ

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Defective SRD5A3 causes SRD5A3-CDG, KHRZ Show undefined attributes

authored	[InstanceEdit:4755549] Jassal, B, 2013-10-25
created	[InstanceEdit:4755549] Jassal, B, 2013-10-25
crossReference	[DatabaseIdentifier:12020873] Mondo:0005500
dbId	4755579
disease	[Disease:3781892] congenital disorder of glycosylation type I
displayName	Defective SRD5A3 causes SRD5A3-CDG, KHRZ
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-4755572] Defective SRD5A3 does not reduce pPNOL to DCHOL - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2019-03-25
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
maxDepth	2
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Defective SRD5A3 causes SRD5A3-CDG, KHRZ Defective SRD5A3 causes CDG-1q and KHRZ
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-4755579
summation	[Summation:4755606] Polyprenol reductase (SRD5A3), resident on the endoplasmic r...
updateTrackers	[UpdateTracker:9778045] Update Tracker - [Pathway:4755579] Defective SRD5A3 causes SRD5A3-CDG, KHRZ - v68:[updateContainedRLE]

Referrals

(updatedInstance)	[UpdateTracker:9778045] Update Tracker - [Pathway:4755579] Defective SRD5A3 causes SRD5A3-CDG, KHRZ - v68:[updateContainedRLE]
(hasEvent)	[Pathway:R-HSA-5609975] Diseases associated with glycosylation precursor biosynthesis

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