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SLC20A2 mutants [plasma membrane]
Stable Identifier
R-HSA-5625105
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 SLC20A2 causes idiopathic basal ganglia calcification 1 (IBGC1) (Homo sapiens)
Defective SLC20A2 does not cotransport Pi, Na+ from extracellular region to cytosol (Homo sapiens)
SLC20A2 mutants [plasma membrane] (Homo sapiens)
Participants
members
SLC20A2 G498R [plasma membrane]
(Homo sapiens)
SLC20A2 L170* [plasma membrane]
(Homo sapiens)
SLC20A2 S601L [plasma membrane]
(Homo sapiens)
SLC20A2 S610Afs*17 [plasma membrane]
(Homo sapiens)
SLC20A2 T595M [plasma membrane]
(Homo sapiens)
SLC20A2 V195Lfs*61 [plasma membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
basal ganglia cerebrovascular disease
DOID:10991
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