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ABCA1 mutants [plasma membrane]
Stable Identifier
R-HSA-5682194
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 ABCA1 causes TGD (Homo sapiens)
Defective ABCA1 does not transport CHOL from transport vesicle membrane to plasma membrane (Homo sapiens)
APOA1(25-266):ABCA1 mutants [plasma membrane] (Homo sapiens)
ABCA1 mutants [plasma membrane] (Homo sapiens)
Participants
members
ABCA1 C1417R [plasma membrane]
(Homo sapiens)
ABCA1 N935S [plasma membrane]
(Homo sapiens)
ABCA1 Q537R [plasma membrane]
(Homo sapiens)
ABCA1 R587W [plasma membrane]
(Homo sapiens)
ABCA1 S1446L [plasma membrane]
(Homo sapiens)
ABCA1 W590S [plasma membrane]
(Homo sapiens)
Participates
as a component of
APOA1(25-266):ABCA1 mutants [plasma membrane] (Homo sapiens)
Disease
Name
Identifier
Synonyms
Tangier disease
DOID:1388
familial alpha-lipoprotein deficiency, familial hypoalphalipoproteinemia, familial high density lipoprotein deficiency
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