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SLC40A1 mutants [plasma membrane]
Stable Identifier
R-HSA-5655811
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 SLC40A1 causes hemochromatosis 4 (HFE4) (duodenum) (Homo sapiens)
Defective SLC40A1 does not transport Fe3+ from extracellular region to cytosol (Homo sapiens)
HEPH:6xCu2+:SLC40A1 mutants [plasma membrane] (Homo sapiens)
SLC40A1 mutants [plasma membrane] (Homo sapiens)
Defective SLC40A1 causes hemochromatosis 4 (HFE4) (macrophages) (Homo sapiens)
Defective SLC40A1 does not transport Fe2+ from cytosol to extracellular region (Homo sapiens)
SLC40A1 mutants:CP:6xCu2+ [plasma membrane] (Homo sapiens)
SLC40A1 mutants [plasma membrane] (Homo sapiens)
Participants
members
SLC40A1 A77D [plasma membrane] (Homo sapiens)
SLC40A1 D157G [plasma membrane] (Homo sapiens)
SLC40A1 D181V [plasma membrane] (Homo sapiens)
SLC40A1 G80V [plasma membrane] (Homo sapiens)
SLC40A1 N144H [plasma membrane] (Homo sapiens)
SLC40A1 V162del [plasma membrane] (Homo sapiens)
Participant Of
hasComponent
HEPH:6xCu2+:SLC40A1 mutants [plasma membrane]
SLC40A1 mutants:CP:6xCu2+ [plasma membrane]
Disease
Name
Identifier
Synonyms
hemochromatosis
2352
iron storage disorder, Hemochromatosis (disorder), diabetes bronze, Bronze diabetes (disorder), HEMOCHROMATOSIS, Hemochromatosis (disorder), Bronzed diabetes, Haemochromatosis, Haemochromatosis
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