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SLC1A3 mutants [plasma membrane]
Stable Identifier
R-HSA-5625204
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
plasma membrane
Locations in the PathwayBrowser
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Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC1A3 causes episodic ataxia 6 (EA6) (Homo sapiens)
Defective SLC1A3 does not cotransport L-Glu,L-Asp,D-Asp,H+,3Na+ from extracellular region to cytosol (Homo sapiens)
SLC1A3 mutants [plasma membrane] (Homo sapiens)
Participants
members
SLC1A3 C186S [plasma membrane]
(Homo sapiens)
SLC1A3 P290R [plasma membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
episodic ataxia
DOID:963
Isaacs syndrome
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