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ACAT1 mutants don't synthesize propionyl-CoA or acetyl-CoA Show undefined attributes

authored

[InstanceEdit:9916982] Rothfels, Karen, 2024年07月29日

catalystActivity

[CatalystActivity:9915358] acetyl-CoA C-acetyltransferase activity of ACAT1 mutant tetramer [mitochondrial matrix]

category transition

compartment

[Compartment:5460] mitochondrial matrix

created [InstanceEdit:9915357] Rothfels, Karen, 2024年07月04日

crossReference

[DatabaseIdentifier:11945064] Mondo:0008760

dbId 9915356

disease

[Disease:9915327] beta-ketothiolase deficiency

displayName ACAT1 mutants don't synthesize propionyl-CoA or acetyl-CoA

edited

[InstanceEdit:9916874] Rothfels, Karen, 2024年07月26日

entityFunctionalStatus

[EntityFunctionalStatus:9915354] loss_of_function of ACAT1 mutant tetramer [mitochondrial matrix]

eventOf

[Pathway:R-HSA-9915355] Beta-ketothiolase deficiency - Homo sapiens

input

isChimeric false

isInDisease true

isInferred false

literatureReference

maxDepth 1

modified [InstanceEdit:9918943] Rothfels, Karen, 2024年08月18日

name

ACAT1 mutants don't synthesize propionyl-CoA or acetyl-CoA

normalReaction [Reaction:R-HSA-70844] alpha-methylacetoacetyl-CoA + CoA => propionyl-CoA + acetyl-CoA

previousReviewStatus [ReviewStatus:9821383] three stars

releaseDate 2024年09月11日

reviewStatus [ReviewStatus:9821382] five stars

reviewed

[InstanceEdit:9918941] D'Eustachio, Peter, 2024年08月18日

schemaClass FailedReaction

species

[Species:48887] Homo sapiens

stId R-HSA-9915356

summation

[Summation:9915283] Mutations in ACAT1 have been identified in cases of beta-ket...

Referrals

(hasEvent)

[Pathway:R-HSA-9915355] Beta-ketothiolase deficiency

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