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SLC34A3 mutants [plasma membrane]
Stable Identifier
R-HSA-5651976
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 SLC34A3 causes Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) (Homo sapiens)
Defective SLC34A3 does not cotransport Pi, 2Na+ (Homo sapiens)
SLC34A3 mutants [plasma membrane] (Homo sapiens)
Participants
members
SLC34A3 C77Afs*75 [plasma membrane]
(Homo sapiens)
SLC34A3 G191R [plasma membrane]
(Homo sapiens)
SLC34A3 P303Rfs*40 [plasma membrane]
(Homo sapiens)
SLC34A3 R468W [plasma membrane]
(Homo sapiens)
SLC34A3 G196R [plasma membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
X-linked hypophosphatemia
DOID:0050445
Rickets, Hypophosphatemic, hypophosphatemic rickets X-linked dominant, X-Linked Hypophosphatemia, Vitamin D-Resistant Rickets, X-Linked, Rickets, Vitamin D-Resistant, Hypophosphatemia, Vitamin D-Resistant Rickets
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