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SLC12A1 mutants [plasma membrane]
Stable Identifier
R-HSA-5623586
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 SLC12A1 causes Bartter syndrome 1 (BS1) (Homo sapiens)
Defective SLC12A1 does not cotransport Na+, K+, 2Cl- from extracellular region to cytosol (Homo sapiens)
SLC12A1 mutants [plasma membrane] (Homo sapiens)
Participants
members
SLC12A1 D648N [plasma membrane]
(Homo sapiens)
SLC12A1 G319R [plasma membrane]
(Homo sapiens)
SLC12A1 R302Q [plasma membrane]
(Homo sapiens)
SLC12A1 V278F [plasma membrane]
(Homo sapiens)
SLC12A1 W625* [plasma membrane]
(Homo sapiens)
SLC12A1 Y998* [plasma membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
Bartter disease
DOID:445
Aldosteronism with hyperplasia of the adrenal cortex, Bartter's syndrome, Bartter's syndrome, Bartter's syndrome, Bartter's syndrome
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