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SLC22A12 mutants [plasma membrane]
Stable Identifier
R-HSA-5625250
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 SLC22A12 causes renal hypouricemia 1 (RHUC1) (Homo sapiens)
Defective SLC22A12 does not exchange extracellular urate for cytosolic LACT (Homo sapiens)
SLC22A12 mutants [plasma membrane] (Homo sapiens)
Participants
members
SLC22A12 E298D [plasma membrane]
(Homo sapiens)
SLC22A12 G361V [plasma membrane]
(Homo sapiens)
SLC22A12 L418R [plasma membrane]
(Homo sapiens)
SLC22A12 R90H [plasma membrane]
(Homo sapiens)
SLC22A12 W258* [plasma membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
acquired metabolic disease
DOID:0060158
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