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SLC2A10 mutants [plasma membrane]
Stable Identifier
R-HSA-5632783
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 SLC2A10 causes arterial tortuosity syndrome (ATS) (Homo sapiens)
Defective SLC2A10 does not transport Glc from extracellular region to cytosol (Homo sapiens)
SLC2A10 mutants [plasma membrane] (Homo sapiens)
Participants
members
SLC2A10 G426W [plasma membrane]
(Homo sapiens)
SLC2A10 G445Efs*40 [plasma membrane]
(Homo sapiens)
SLC2A10 R132W [plasma membrane]
(Homo sapiens)
SLC2A10 S81R [plasma membrane]
(Homo sapiens)
SLC2A10 V321Cfs*71 [plasma membrane]
(Homo sapiens)
SLC2A10 W170* [plasma membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
arterial tortuosity syndrome
DOID:0050645
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