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SLC6A5 mutants [plasma membrane]
Stable Identifier
R-HSA-5660834
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 SLC6A5 causes hyperekplexia 3 (HKPX3) (Homo sapiens)
Defective SLC6A5 does not cotransport Gly, Cl-, Na+ from extracellular region to cytosol (Homo sapiens)
SLC6A5 mutants [plasma membrane] (Homo sapiens)
Participants
members
SLC6A5 S510R [plasma membrane]
(Homo sapiens)
SLC6A5 T425M [plasma membrane]
(Homo sapiens)
SLC6A5 V432F [plasma membrane]
(Homo sapiens)
SLC6A5 Y377* [plasma membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
brain disease
DOID:936
encephalopathy
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