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ABCG8 mutants [plasma membrane]
Stable Identifier
R-HSA-5679186
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
plasma membrane
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
ABC transporter disorders (Homo sapiens)
Defective ABCG8 causes GBD4 and sitosterolemia (Homo sapiens)
Defective ABCG8 (in ABCG5:ABCG8) does not transport sterols from cytosol to extracellular region (Homo sapiens)
mutant ABCG8:ABCG5 [plasma membrane] (Homo sapiens)
ABCG8 mutants [plasma membrane] (Homo sapiens)
Participants
members
ABCG8 G574R [plasma membrane]
(Homo sapiens)
ABCG8 P231T [plasma membrane]
(Homo sapiens)
ABCG8 R263Q [plasma membrane]
(Homo sapiens)
ABCG8 W361* [plasma membrane]
(Homo sapiens)
ABCG8 Y658* [plasma membrane]
(Homo sapiens)
ABCG8 D19H [plasma membrane]
(Homo sapiens)
Participates
as a component of
mutant ABCG8:ABCG5 [plasma membrane] (Homo sapiens)
Disease
Name
Identifier
Synonyms
lipid metabolism disorder
DOID:3146
dyslipidemia, fatty acid metabolism disorder
cholelithiasis
DOID:10211
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