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Query author contributions in Reactome

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Details on Person N59S ECHS1 [mitochondrial matrix]

Class:IdEntityWithAccessionedSequence:9916684
_displayNameN59S ECHS1 [mitochondrial matrix]
_timestamp2024-07-25 19:37:50
compartment[Compartment:5460] mitochondrial matrix
created[InstanceEdit:9916660] Rothfels, Karen, 2024-07-25
crossReference[DatabaseIdentifier:9916671] ClinGen:CA090977
disease[Disease:9916658] mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
endCoordinate290
hasModifiedResidue[ReplacedResidue:9916644] L-asparagine 59 replaced with L-serine
literatureReference[LiteratureReference:9916618] Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement
[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:9916599] A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies
nameN59S ECHS1
Enoyl-CoA hydratase, mitochondrial precursor
Short chain enoyl-CoA hydratase
Enoyl-CoA hydratase 1
referenceEntity[ReferenceGeneProduct:54126] UniProt:P30084 ECHS1 [Homo sapiens]
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9916704] R-HSA-9916684.1
startCoordinate28
(hasMember)[CandidateSet:9916709] ECHS1 mutants [mitochondrial matrix] [Homo sapiens]
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No pathways have been reviewed or authored by N59S ECHS1 [mitochondrial matrix] (9916684)
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