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ABCD1 mutants [peroxisomal membrane]
Stable Identifier
R-HSA-5685092
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
peroxisomal membrane
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
ABC transporter disorders (Homo sapiens)
Defective ABCD1 causes ALD (Homo sapiens)
Defective ABCD1 does not transfer LCFAs from cytosol to peroxisomal matrix (Homo sapiens)
ABCD1 mutants [peroxisomal membrane] (Homo sapiens)
Participants
members
ABCD1 G277R [peroxisomal membrane]
(Homo sapiens)
ABCD1 M1V [peroxisomal membrane]
(Homo sapiens)
ABCD1 R554H [peroxisomal membrane]
(Homo sapiens)
ABCD1 R617C [peroxisomal membrane]
(Homo sapiens)
ABCD1 S606L [peroxisomal membrane]
(Homo sapiens)
ABCD1 T77_L82del [peroxisomal membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
adrenoleukodystrophy
DOID:10588
ALD, Siemerling-Creutzfeldt Disease, diffuse sclerosis, X-linked adrenoleukodystrophy, Adrenoleukodystrophy, Schilder disease, Bronze Schilder disease, Encephalitis periaxialis, Schilder's, Encephalitis periaxialis concentrica, SUDANOPHILIC CEREBRAL SCLEROSIS
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