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MMACHC mutants [cytosol]
Stable Identifier
R-HSA-3318601
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
cytosol
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Defects in vitamin and cofactor metabolism (Homo sapiens)
Defects in cobalamin (B12) metabolism (Homo sapiens)
Defective MMACHC causes MAHCC (Homo sapiens)
Defective MMACHC does not decyanate CNCbl (Homo sapiens)
MMACHC mutants [cytosol] (Homo sapiens)
Defective MMACHC does not reduce Cbl (Homo sapiens)
MMACHC mutants [cytosol] (Homo sapiens)
Participants
members
MMACHC R111* [cytosol]
(Homo sapiens)
MMACHC R91Kfs*14 [cytosol]
(Homo sapiens)
MMACHC R132* [cytosol]
(Homo sapiens)
MMACHC R161Q [cytosol]
(Homo sapiens)
MMACHC W203* [cytosol]
(Homo sapiens)
Participates
as an input of
Defective MMACHC does not decyanate CNCbl (Homo sapiens)
Defective MMACHC does not reduce Cbl (Homo sapiens)
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