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Details on Person ACAT1 mutants don't synthesize propionyl-CoA or acetyl-CoA

Class:IdFailedReaction:9915356
_displayNameACAT1 mutants don't synthesize propionyl-CoA or acetyl-CoA
_doReleaseTRUE
_timestamp2024-08-18 18:17:42
authored[InstanceEdit:9916982] Rothfels, Karen, 2024-07-29
catalystActivity[CatalystActivity:9915358] acetyl-CoA C-acetyltransferase activity of ACAT1 mutant tetramer [mitochondrial matrix]
compartment[Compartment:5460] mitochondrial matrix
created[InstanceEdit:9915357] Rothfels, Karen, 2024-07-04
disease[Disease:9915327] beta-ketothiolase deficiency
edited[InstanceEdit:9916874] Rothfels, Karen, 2024-07-26
entityFunctionalStatus[EntityFunctionalStatus:9915354] loss_of_function of ACAT1 mutant tetramer [mitochondrial matrix]
input[SimpleEntity:70836] 2MACA-CoA [mitochondrial matrix]
[SimpleEntity:29374] CoA-SH [mitochondrial matrix]
internalReviewed[InstanceEdit:9917135] Stephan, Ralf, 2024-07-30
isChimericFALSE
literatureReference[LiteratureReference:9915306] Inborn errors of isoleucine degradation: a review
[LiteratureReference:9915313] Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency
[LiteratureReference:9915323] Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency
[LiteratureReference:9915301] Molecular, biochemical, and clinical characterization of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in two further patients
[LiteratureReference:9915305] Identification of three mutant alleles of the gene for mitochondrial acetoacetyl-coenzyme A thiolase. A complete analysis of two generations of a family with 3-ketothiolase deficiency
modified[InstanceEdit:9916983] Rothfels, Karen, 2024-07-29
[InstanceEdit:9917203] Rothfels, Karen, 2024-07-31
[InstanceEdit:9917785] Rothfels, Karen, 2024-08-13
[InstanceEdit:9917787] Rothfels, Karen, 2024-08-13
[InstanceEdit:9918943] Rothfels, Karen, 2024-08-18
nameACAT1 mutants don't synthesize propionyl-CoA or acetyl-CoA
normalReaction
previousReviewStatus[ReviewStatus:9821383] three stars
releaseDate2024-09-11
reviewed[InstanceEdit:9918941] D'Eustachio, Peter, 2024-08-18
reviewStatus[ReviewStatus:9821382] five stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9915359] R-HSA-9915356.1
summation[Summation:9915283] Mutations in ACAT1 have been identified in cases of beta-ket...
(hasEvent)[Pathway:9915355] Beta-ketothiolase deficiency [Homo sapiens]
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