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SLC4A1 mutants [plasma membrane]
Stable Identifier
R-HSA-5657826
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 SLC4A1 causes hereditary spherocytosis type 4 (HSP4), distal renal tubular acidosis (dRTA) and dRTA with hemolytic anemia (dRTA-HA) (Homo sapiens)
Defective SLC4A1 does not exchange Cl- for HCO3- (in erythrocytes) (Homo sapiens)
SLC4A1 mutants [plasma membrane] (Homo sapiens)
Participants
members
SLC4A1 G701D [plasma membrane]
(Homo sapiens)
SLC4A1 R589C [plasma membrane]
(Homo sapiens)
SLC4A1 R589H [plasma membrane]
(Homo sapiens)
SLC4A1 S613F [plasma membrane]
(Homo sapiens)
SLC4A1 V488M [plasma membrane]
(Homo sapiens)
SLC4A1 V850del [plasma membrane]
(Homo sapiens)
SLC4A1 E90K [plasma membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
hereditary spherocytosis
DOID:12971
Minkowski Chauffard syndrome, Congenital spherocytic hemolytic anemia, spherocytic anemia
hemolytic anemia
DOID:583
Hemolytic anemias (disorder), Hemolytic anemia (disorder), Hemolytic anemias NOS (disorder), hemolytic anemia, ANEMIA HEMOLYTIC
renal tubular acidosis
DOID:14219
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