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SLC29A3 mutants [lysosomal membrane]
Stable Identifier
R-HSA-5628794
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 SLC29A3 causes histiocytosis-lymphadenopathy plus syndrome (HLAS) (Homo sapiens)
Defective SLC29A3 does not transport nucleosides from lysosomal lumen to cytosol (Homo sapiens)
SLC29A3 mutants [lysosomal membrane] (Homo sapiens)
Participants
members
SLC29A3 G427S [lysosomal membrane]
(Homo sapiens)
SLC29A3 L348Sfs*56 [lysosomal membrane]
(Homo sapiens)
SLC29A3 M116R [lysosomal membrane]
(Homo sapiens)
SLC29A3 R363Q [lysosomal membrane]
(Homo sapiens)
SLC29A3 R363W [lysosomal membrane]
(Homo sapiens)
SLC29A3 R386Q [lysosomal membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
histiocytosis
DOID:3405
Hand Schuller Christian disease, chronic Histiocytosis X
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