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Entries
Defective transport of amino acids by SLC6A19 causes Hartnup disorder (HND)
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authored
[InstanceEdit:5619074] Jassal, Bijay, 2014-08-22
created
[InstanceEdit:5659745] Jassal, Bijay, 2014-12-23
crossReference
[DatabaseIdentifier:12020981] Mondo:0009324
dbId
5659735
disease
[Disease:5659739] Hartnup disease
displayName
Defective transport of amino acids by SLC6A19 causes Hartnup disorder (HND)
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-5659734] Defective SLC6A19 does not cotransport neutral amino acids, Na+ from extracellular region to cytosol - Homo sapiens
isInDisease
true
isInferred
false
lastUpdatedDate
2019-03-25
literatureReference
[LiteratureReference:5668912] Amino acid secondary transporters: toward a common transport mechanism
[LiteratureReference:5659753] The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition
[LiteratureReference:5659749] Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder
maxDepth
2
modified
[InstanceEdit:9974017] Stephan, Ralf, 2025-11-18
name
Defective transport of amino acids by SLC6A19 causes Hartnup disorder (HND)
normalPathway
[Pathway:R-HSA-9958863] SLC-mediated transport of amino acids
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-5659735
summation
[Summation:5659748] SLC6A19 encodes the sodium-dependent neutral amino acid tran...
updateTrackers
[UpdateTracker:9777886] Update Tracker - [Pathway:5659735] Defective SLC6A19 causes Hartnup disorder (HND) - v68:[updateContainedRLE]
Referrals
(updatedInstance)
[UpdateTracker:9777886] Update Tracker - [Pathway:5659735] Defective SLC6A19 causes Hartnup disorder (HND) - v68:[updateContainedRLE]
(hasEvent)
[Pathway:R-HSA-5619102] SLC transporter disorders
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