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SLC17A5 mutants [lysosomal membrane]
Stable Identifier
R-HSA-5624261
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
lysosomal membrane
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective SLC17A5 causes Salla disease (SD) and ISSD (Homo sapiens)
Defective SLC17A5 does not cotransport Neu5Ac, H+ from lysosomal lumen to cytosol (Homo sapiens)
SLC17A5 mutants [lysosomal membrane] (Homo sapiens)
Participants
members
SLC17A5 H183R [lysosomal membrane]
(Homo sapiens)
SLC17A5 I373Lfs*26 [lysosomal membrane]
(Homo sapiens)
SLC17A5 P334R [lysosomal membrane]
(Homo sapiens)
SLC17A5 R39C [lysosomal membrane]
(Homo sapiens)
SLC17A5 T178Nfs*34 [lysosomal membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
inherited metabolic disorder
DOID:655
Metabolic hereditary disorder, Inborn Errors of Metabolism, inborn metabolism disorder
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