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ACY1 mutants [cytosol]
Stable Identifier
R-HSA-5579044
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
cytosol
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Metabolic disorders of biological oxidation enzymes (Homo sapiens)
Defective ACY1 causes encephalopathy (Homo sapiens)
Defective ACY1 does not hydrolyse mercapturic acids (Homo sapiens)
ACY1 mutants:Zn2+ dimer [cytosol] (Homo sapiens)
ACY1 mutants [cytosol] (Homo sapiens)
Participants
members
ACY1 E233D [cytosol]
(Homo sapiens)
ACY1 P369Hfs*47 [cytosol]
(Homo sapiens)
ACY1 R197W [cytosol]
(Homo sapiens)
ACY1 R353C [cytosol]
(Homo sapiens)
ACY1 R393H [cytosol]
(Homo sapiens)
Participates
as a component of
ACY1 mutants:Zn2+ dimer [cytosol] (Homo sapiens)
Disease
Name
Identifier
Synonyms
toxic encephalopathy
DOID:3602
Neurotoxicity (disorder), neurotoxicity, neurotoxicity syndrome, neurotoxicity
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