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SLC6A19 mutants [plasma membrane]
Stable Identifier
R-HSA-5659731
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
plasma membrane
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC6A19 causes Hartnup disorder (HND) (Homo sapiens)
Defective SLC6A19 does not cotransport neutral amino acids, Na+ from extracellular region to cytosol (Homo sapiens)
SLC6A19 mutants [plasma membrane] (Homo sapiens)
Participants
members
SLC6A19 D173N [plasma membrane]
(Homo sapiens)
SLC6A19 I596Hfs*73 [plasma membrane]
(Homo sapiens)
SLC6A19 R240* [plasma membrane]
(Homo sapiens)
SLC6A19 S303L [plasma membrane]
(Homo sapiens)
SLC6A19 V295Afs*57 [plasma membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
Hartnup disease
DOID:1060
neutral amino acid transport defect, Neutral 1 amino acid transport defect (disorder), deficiency of tryptophan oxygenase
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