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RHAG mutants [plasma membrane]
Stable Identifier
R-HSA-5623052
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 RHAG causes regulator type Rh-null hemolytic anemia (RHN) (Homo sapiens)
Defective RHAG does not transport NH4+ from cytosol to extracellular region (rbc) (Homo sapiens)
RHAG mutants [plasma membrane] (Homo sapiens)
Participants
members
RHAG A363Lfs*15 [plasma membrane]
(Homo sapiens)
RHAG G280R [plasma membrane]
(Homo sapiens)
RHAG G380V [plasma membrane]
(Homo sapiens)
RHAG P52Dfs*57 [plasma membrane]
(Homo sapiens)
RHAG S79N [plasma membrane]
(Homo sapiens)
RHAG V270I [plasma membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
Rh deficiency syndrome
DOID:0050641
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