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ACAT1 mutants [mitochondrial matrix]
Stable Identifier
R-HSA-9915349
Type
Set [CandidateSet]
Species
Homo sapiens
Compartment
mitochondrial matrix
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of branched-chain amino acid catabolism (Homo sapiens)
Beta-ketothiolase deficiency (Homo sapiens)
ACAT1 mutants don't synthesize propionyl-CoA or acetyl-CoA (Homo sapiens)
ACAT1 mutant tetramer [mitochondrial matrix] (Homo sapiens)
ACAT1 mutants [mitochondrial matrix] (Homo sapiens)
ACAT1 mutants [mitochondrial matrix] (Homo sapiens)
Participants
candidates
N93S ACAT1(35-427) [mitochondrial matrix]
(Homo sapiens)
N158D ACAT1(35-427) [mitochondrial matrix]
(Homo sapiens)
G183R ACAT1(35-427) [mitochondrial matrix]
(Homo sapiens)
A301P ACAT1(35-427) [mitochondrial matrix]
(Homo sapiens)
A333P ACAT1(35-427) [mitochondrial matrix]
(Homo sapiens)
Participates
as a component of
ACAT1 mutant tetramer [mitochondrial matrix] (Homo sapiens)
Disease
Name
Identifier
Synonyms
beta-ketothiolase deficiency
DOID:14723
3-ketothiolase deficiency, 3-oxothiolase deficiency, Mitochondrial acetoacetyl-CoA Thiolase deficiency, 2-methyl-3-hydroxybutyricacidemia, alpha-methylacetoaceticaciduria, peroxisomal thiolase deficiency
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