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Details on Person ECHS1 mutants don't synthesize beta-hydroxyisobutyryl-CoA

Class:Id	FailedReaction:9916717
_displayName	ECHS1 mutants don't synthesize beta-hydroxyisobutyryl-CoA
_doRelease	TRUE
_timestamp	2024-08-18 18:18:08
authored	[InstanceEdit:9916982] Rothfels, Karen, 2024-07-29
catalystActivity	[CatalystActivity:9916714] enoyl-CoA hydratase activity of ECHS1 mutant hexamer [mitochondrial matrix]
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9916716] Rothfels, Karen, 2024-07-25
disease	[Disease:9916658] mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
edited	[InstanceEdit:9916874] Rothfels, Karen, 2024-07-26
entityFunctionalStatus	[EntityFunctionalStatus:9916715] loss_of_function of ECHS1 mutant hexamer [mitochondrial matrix]
input	[SimpleEntity:113521] H2O [mitochondrial matrix] [SimpleEntity:70858] MACR-CoA [mitochondrial matrix]
internalReviewed	[InstanceEdit:9917135] Stephan, Ralf, 2024-07-30
isChimeric	FALSE
literatureReference	[LiteratureReference:9672910] Clinical, biochemical and metabolic characterisation of a mild form of human short-chain enoyl-CoA hydratase deficiency: significance of increased N-acetyl-S-(2-carboxypropyl)cysteine excretion [LiteratureReference:9916571] Molecular cloning and sequence analysis of the cDNA for human mitochondrial short-chain enoyl-CoA hydratase [LiteratureReference:9916574] Mitochondrial protein acetylation is driven by acetyl-CoA from fatty acid oxidation [LiteratureReference:9916620] Leigh syndrome [LiteratureReference:9916564] Molecular basis of Leigh syndrome: a current look [LiteratureReference:9916618] Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement [LiteratureReference:9916599] A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies [LiteratureReference:9916598] ECHS1 mutations in Leigh disease: a new inborn error of metabolism affecting valine metabolism [LiteratureReference:9916629] Clinical and biochemical characterization of four patients with mutations in ECHS1 [LiteratureReference:9916589] Clinical, biochemical, and genetic features of four patients with short-chain enoyl-CoA hydratase (ECHS1) deficiency [LiteratureReference:9916585] ECHS1 mutations cause combined respiratory chain deficiency resulting in Leigh syndrome [LiteratureReference:9916626] Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome
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
name	ECHS1 mutants don't synthesize beta-hydroxyisobutyryl-CoA
normalReaction	[Reaction:70870] ECHS1 hydrates methacrylyl-CoA [Homo sapiens]
previousReviewStatus	[ReviewStatus:9821383] three stars
releaseDate	2024-09-11
reviewed	[InstanceEdit:9918941] D'Eustachio, Peter, 2024-08-18
reviewStatus	[ReviewStatus:9821382] five stars
species	[Species:48887] Homo sapiens
stableIdentifier	[StableIdentifier:9916718] R-HSA-9916717.1
summation	[Summation:9916656] ECHS1 catalyzes the fourth step in valine catabolism, the co...
(hasEvent)	[Pathway:9916720] Mitochondrial short-chain enoyl-CoA hydratase deficiency 1 [Homo sapiens]
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