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mutant ABCG5:ABCG8 [plasma membrane]
Stable Identifier
R-HSA-5679112
Type
Complex
Species
Homo sapiens
Compartment
plasma membrane
Locations in the PathwayBrowser
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Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
ABC transporter disorders (Homo sapiens)
Defective ABCG5 causes sitosterolemia (Homo sapiens)
Defective ABCG5 (in ABCG5:ABCG8) does not transport sterols from cytosol to extracellular region (Homo sapiens)
mutant ABCG5:ABCG8 [plasma membrane] (Homo sapiens)
Participants
components
ABCG5 mutants [plasma membrane]
(Homo sapiens)
ABCG8 [plasma membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
lipid metabolism disorder
DOID:3146
dyslipidemia, fatty acid metabolism disorder
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