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SLC12A6 mutants [plasma membrane]
Stable Identifier
R-HSA-5623803
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 SLC12A6 causes agenesis of the corpus callosum, with peripheral neuropathy (ACCPN) (Homo sapiens)
Defective SLC12A6 does not cotransport K+, Cl- from cytosol to extracellular region (Homo sapiens)
SLC12A6 mutants [plasma membrane] (Homo sapiens)
Participants
members
SLC12A6 F529fs*532 [plasma membrane]
(Homo sapiens)
SLC12A6 R1011* [plasma membrane]
(Homo sapiens)
SLC12A6 R1134* [plasma membrane]
(Homo sapiens)
SLC12A6 R675* [plasma membrane]
(Homo sapiens)
SLC12A6 T813fs*813 [plasma membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
neuropathy
DOID:870
peripheral neuropathy
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