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GGT1 mutants [plasma membrane]
Stable Identifier
R-HSA-5602933
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
plasma membrane
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective GGT1 causes GLUTH (Homo sapiens)
Defective GGT1 does not hydrolyse GSH (Homo sapiens)
GGT1 mutants [plasma membrane] (Homo sapiens)
Defective GGT1 in aflatoxin detoxification causes GLUTH (Homo sapiens)
Defective GGT1 does not hydrolyse glutamate from AFXBO-SG, AFNBO-SG (Homo sapiens)
GGT1 mutants [plasma membrane] (Homo sapiens)
Participants
members
GGT1(1-380) R107H [plasma membrane]
(Homo sapiens)
GGT1(1-380) R107Q [plasma membrane]
(Homo sapiens)
GGT1(381-569) D423A [plasma membrane]
(Homo sapiens)
GGT1(381-569) D423E [plasma membrane]
(Homo sapiens)
GGT1(381-569) S451A [plasma membrane]
(Homo sapiens)
GGT1(381-569) S452A [plasma membrane]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
inherited metabolic disorder
DOID:655
Metabolic hereditary disorder, Inborn Errors of Metabolism, inborn metabolism disorder
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