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Details on Person IVD mutants don't synthesize beta-methylcrotonyl-CoA

Class:IdFailedReaction:9914837
_displayNameIVD mutants don't synthesize beta-methylcrotonyl-CoA
_doReleaseTRUE
_timestamp2024-08-18 18:18:18
authored[InstanceEdit:9916982] Rothfels, Karen, 2024-07-29
catalystActivity[CatalystActivity:9914834] 3-methylbutanoyl-CoA dehydrogenase activity of mutant IVD tetramer [mitochondrial matrix]
compartment[Compartment:5460] mitochondrial matrix
created[InstanceEdit:9914836] Rothfels, Karen, 2024-06-27
disease[Disease:9914357] isovaleric acidemia
edited[InstanceEdit:9916874] Rothfels, Karen, 2024-07-26
entityFunctionalStatus[EntityFunctionalStatus:9914832] loss_of_function of mutant IVD tetramer [mitochondrial matrix]
input[SimpleEntity:113596] FAD [mitochondrial matrix]
[SimpleEntity:70715] ISV-CoA [mitochondrial matrix]
internalReviewed[InstanceEdit:9917135] Stephan, Ralf, 2024-07-30
isChimericFALSE
literatureReference[LiteratureReference:9914727] Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia
[LiteratureReference:9914743] Clinical variability of isovaleric acidemia in a genetically homogeneous population
[LiteratureReference:9914747] Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis
[LiteratureReference:9914719] Genotype-phenotype correlation in patients with isovaleric acidaemia: comparative structural modelling and computational analysis of novel variants
modified[InstanceEdit:9916983] Rothfels, Karen, 2024-07-29
[InstanceEdit:9917208] 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
nameIVD mutants don't synthesize beta-methylcrotonyl-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:9914838] R-HSA-9914837.1
summation[Summation:9914759] The following mutations in IVD have been identified in patie...
(hasEvent)[Pathway:9914355] Isovaleric acidemia [Homo sapiens]
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No pathways have been reviewed or authored by IVD mutants don't synthesize beta-methylcrotonyl-CoA (9914837)
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