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SLC39A4 mutants [plasma membrane]
Stable Identifier
R-HSA-5654134
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 SLC39A4 causes acrodermatitis enteropathica, zinc-deficiency type (AEZ) (Homo sapiens)
Defective SLC39A4 does not transport Zn2+ from extracellular region to cytosol (Homo sapiens)
SLC39A4 mutants [plasma membrane] (Homo sapiens)
Participants
members
SLC39A4 1223_1227del [plasma membrane]
(Homo sapiens)
SLC39A4 Q323Qfs*25 [plasma membrane]
(Homo sapiens)
SLC39A4 G330D [plasma membrane]
(Homo sapiens)
SLC39A4 G512W [plasma membrane]
(Homo sapiens)
SLC39A4 G526R [plasma membrane]
(Homo sapiens)
SLC39A4 L549del [plasma membrane]
(Homo sapiens)
SLC39A4 P200L [plasma membrane]
(Homo sapiens)
SLC39A4 R95C [plasma membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
acrodermatitis enteropathica
DOID:0050605
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