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SLC24A4 mutants [plasma membrane]
Stable Identifier
R-HSA-5626236
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 SLC24A4 causes hypomineralized amelogenesis imperfecta (AI) (Homo sapiens)
Defective SLC24A4 does not exchange extracellular 4Na+ for cytosolic Ca2+, K+ (Homo sapiens)
SLC24A4 mutants [plasma membrane] (Homo sapiens)
Participants
members
SLC24A4 A146V [plasma membrane]
(Homo sapiens)
SLC24A4 R339* [plasma membrane]
(Homo sapiens)
SLC24A4 S499C [plasma membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
amelogenesis imperfecta
DOID:2187
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