Reactome | Defective SLC17A5 causes Salla disease (SD) and ISSD

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Defective SLC17A5 causes Salla disease (SD) and ISSD Show undefined attributes

authored	[InstanceEdit:5619074] Jassal, Bijay, 2014-08-22
created	[InstanceEdit:5619074] Jassal, Bijay, 2014-08-22
crossReference	[DatabaseIdentifier:12020859] Mondo:0019052
dbId	5619035
disease	[Disease:5602847] inherited metabolic disorder
displayName	Defective SLC17A5 causes Salla disease (SD) and ISSD
edited	[InstanceEdit:5619074] Jassal, Bijay, 2014-08-22
eventOf	[Pathway:R-HSA-5619102] SLC transporter disorders - Homo sapiens
hasDiagram	true
hasEHLD	false
hasEvent	[FailedReaction:R-HSA-5624239] Defective SLC17A5 does not cotransport Neu5Ac, H+ from lysosomal lumen to cytosol - Homo sapiens
isInDisease	true
isInferred	false
lastUpdatedDate	2019-03-25
literatureReference	[LiteratureReference:428622] A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases [LiteratureReference:428578] The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation
maxDepth	2
modified	[InstanceEdit:9847082] Weiser, Joel, 2023-10-12
name	Defective SLC17A5 causes Salla disease (SD) and ISSD
normalPathway	[Pathway:R-HSA-4085001] Sialic acid metabolism
releaseDate	2015-09-22
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:6789776] Broer, Stefan, 2015-08-04
schemaClass	Pathway
species	[Species:48887] Homo sapiens
stId	R-HSA-5619035
summation	[Summation:5624240] SLC17A5 encodes a lysosomal sialic acid transporter, sialin ...
updateTrackers	[UpdateTracker:9778095] Update Tracker - [Pathway:5619035] Defective SLC17A5 causes Salla disease (SD) and ISSD - v68:[updateContainedRLE]

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(updatedInstance)	[UpdateTracker:9778095] Update Tracker - [Pathway:5619035] Defective SLC17A5 causes Salla disease (SD) and ISSD - v68:[updateContainedRLE]
(hasEvent)	[Pathway:R-HSA-5619102] SLC transporter disorders

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