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SLC12A3 mutants [plasma membrane]
Stable Identifier
R-HSA-5623704
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 SLC12A3 causes Gitelman syndrome (GS) (Homo sapiens)
Defective SLC12A3 does not cotransport Cl-, Na+ from extracellular region to cytosol (Homo sapiens)
SLC12A3 mutants [plasma membrane] (Homo sapiens)
Participants
members
SLC12A3 G741R [plasma membrane]
(Homo sapiens)
SLC12A3 L272P [plasma membrane]
(Homo sapiens)
SLC12A3 L850P [plasma membrane]
(Homo sapiens)
SLC12A3 T392I [plasma membrane]
(Homo sapiens)
SLC12A3 T60M [plasma membrane]
(Homo sapiens)
SLC12A3 E121D [plasma membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
Gitelman syndrome
DOID:0050450
HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA
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