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

authored

[InstanceEdit:5619074] Jassal, Bijay, 2014年08月22日

created [InstanceEdit:5619074] Jassal, Bijay, 2014年08月22日

crossReference

[DatabaseIdentifier:11945002] 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年08月22日

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年03月25日

literatureReference

maxDepth 2

modified [InstanceEdit:9847082] Weiser, Joel, 2023年10月12日

name

Defective SLC17A5 causes Salla disease (SD) and ISSD

normalPathway [Pathway:R-HSA-4085001] Sialic acid metabolism

releaseDate 2015年09月22日

reviewStatus [ReviewStatus:9821382] five stars

reviewed

[InstanceEdit:6789776] Broer, Stefan, 2015年08月04日

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]

Referrals

(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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