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2xMMAA mutants:2xMUT [mitochondrial matrix]
Stable Identifier
R-HSA-5654974
Type
Complex
Species
Homo sapiens
Compartment
mitochondrial matrix
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 MMAA causes MMA, cblA type (Homo sapiens)
Defective MMAA does not protect MUT (Homo sapiens)
2xMMAA mutants:2xMUT [mitochondrial matrix] (Homo sapiens)
Participants
components
2xMUT [mitochondrial matrix]
(Homo sapiens)
x 2
MMAA mutants [mitochondrial matrix]
(Homo sapiens)
Participates
as an input of
Defective MMAA does not protect MUT (Homo sapiens)
Disease
Name
Identifier
Synonyms
methylmalonic acidemia
DOID:14749
METHYLMALONICACIDURIA DUE TO METHYLMALONIC CoA MUTASE deficiency, METHYLMALONIC ACIDURIA, mut TYPE, METHYLMALONIC ACIDEMIA, cblB TYPE, methylmalonic aciduria mut type, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl B, methylmalonic aciduria cblB type, METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblA TYPE, methylmalonic aciduria, METHYLMALONIC ACIDURIA, VITAMIN B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN, cblB TYPE, METHYLMALONIC ACIDEMIA, cblA TYPE, METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A
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