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Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP) 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

dbId 5619053

disease

[Disease:5625675] systemic primary carnitine deficiency disease

displayName Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)

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-5625674] Defective SLC22A5 does not cotransport CAR, Na+ from extracellular region to cytosol - Homo sapiens

isInDisease true

isInferred false

lastUpdatedDate 2019年03月25日

literatureReference

maxDepth 2

modified [InstanceEdit:12757879] Weiser, Joel, 2025年08月05日

name

Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP)

normalPathway [Pathway:R-HSA-549127] SLC-mediated transport of organic cations

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-5619053

summation

[Summation:5625691] The human SLC22A5,15 and 16 genes encode for sodium-dependen...

updateTrackers

[UpdateTracker:9778439] Update Tracker - [Pathway:5619053] Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP) - v68:[updateContainedRLE]

Referrals

(updatedInstance)

[UpdateTracker:9778439] Update Tracker - [Pathway:5619053] Defective SLC22A5 causes systemic primary carnitine deficiency (CDSP) - v68:[updateContainedRLE]

(hasEvent)

[Pathway:R-HSA-5619102] SLC transporter disorders

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