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SLC7A7 mutants [plasma membrane]
Stable Identifier
R-HSA-5660894
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 SLC7A7 causes lysinuric protein intolerance (LPI) (Homo sapiens)
Defective SLC7A7 does not exchange L-Arg for L-Leu, Na+ across the plasma membrane (Homo sapiens)
SLC3A2:SLC7A7 mutants [plasma membrane] (Homo sapiens)
SLC7A7 mutants [plasma membrane] (Homo sapiens)
Participants
members
SLC7A7 L334R [plasma membrane]
(Homo sapiens)
SLC7A7 M50K [plasma membrane]
(Homo sapiens)
SLC7A7 T188I [plasma membrane]
(Homo sapiens)
SLC7A7 T299Ifs*10 [plasma membrane]
(Homo sapiens)
SLC7A7 W242* [plasma membrane]
(Homo sapiens)
SLC7A7 Y457* [plasma membrane]
(Homo sapiens)
Participates
as a component of
SLC3A2:SLC7A7 mutants [plasma membrane] (Homo sapiens)
Disease
Name
Identifier
Synonyms
amino acid metabolic disorder
DOID:9252
inborn errors of amino acid metabolism
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