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SLC2A2 mutants [plasma membrane]
Stable Identifier
R-HSA-5638256
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 SLC2A2 causes Fanconi-Bickel syndrome (FBS) (Homo sapiens)
Defective SLC2A2 does not transport Fru, Gal, Glc from cytosol to extracellular region (Homo sapiens)
SLC2A2 mutants [plasma membrane] (Homo sapiens)
Participants
members
SLC2A2 L389P [plasma membrane]
(Homo sapiens)
SLC2A2 L46Wfs*29 [plasma membrane]
(Homo sapiens)
SLC2A2 P417L [plasma membrane]
(Homo sapiens)
SLC2A2 Q287* [plasma membrane]
(Homo sapiens)
SLC2A2 R301* [plasma membrane]
(Homo sapiens)
SLC2A2 R365* [plasma membrane]
(Homo sapiens)
SLC2A2 V423E [plasma membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
renal tubular transport disease
DOID:447
inborn renal tubular transport disorder
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