Reactome | I66T ECHS1 [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9916660] Rothfels, Karen, 2024-07-25
crossReference	[DatabaseIdentifier:12020923] Mondo:0014563 [DatabaseIdentifier:9916670] ClinGen:CA216819172
dbId	9916659
disease	[Disease:9916658] mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
displayName	I66T ECHS1 [mitochondrial matrix]
endCoordinate	290
hasModifiedResidue	[ReplacedResidue:9916652] L-isoleucine 60 replaced with L-threonine
inDisease	true
literatureReference	[LiteratureReference:9916618] Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement
maxDepth	1
memberOf	[CandidateSet:R-HSA-9916709] ECHS1 mutants [mitochondrial matrix] - Homo sapiens
name	I66T ECHS1 Enoyl-CoA hydratase, mitochondrial precursor Short chain enoyl-CoA hydratase Enoyl-CoA hydratase 1
referenceEntity	[ReferenceGeneProduct:uniprot:P30084] UniProt:P30084 ECHS1
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9916659
startCoordinate	28

(hasMember)

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