Reactome | ECHS1 mutants [mitochondrial matrix]

Schema > CandidateSet > Entries

ECHS1 mutants [mitochondrial matrix] Show undefined attributes

compartment	[Compartment:5460] mitochondrial matrix
componentOf	[Complex:R-HSA-9916711] ECHS1 mutant hexamer [mitochondrial matrix] - Homo sapiens [Complex:R-HSA-9916711] ECHS1 mutant hexamer [mitochondrial matrix] - Homo sapiens [Complex:R-HSA-9916711] ECHS1 mutant hexamer [mitochondrial matrix] - Homo sapiens [Complex:R-HSA-9916711] ECHS1 mutant hexamer [mitochondrial matrix] - Homo sapiens [Complex:R-HSA-9916711] ECHS1 mutant hexamer [mitochondrial matrix] - Homo sapiens [Complex:R-HSA-9916711] ECHS1 mutant hexamer [mitochondrial matrix] - Homo sapiens
created	[InstanceEdit:9916708] Rothfels, Karen, 2024-07-25
crossReference	[DatabaseIdentifier:12020923] Mondo:0014563
dbId	9916709
disease	[Disease:9916658] mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
displayName	ECHS1 mutants [mitochondrial matrix]
hasCandidate	[EntityWithAccessionedSequence:R-HSA-9916688] A2V ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916665] A132T ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916687] T180A ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916681] G195S ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916686] A238V ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916680] K273E ECHS1 [mitochondrial matrix] - Homo sapiens
hasMember	[EntityWithAccessionedSequence:R-HSA-9916683] A138V ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916689] A158D ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916672] C225R ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916674] D150G ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916667] E77Q ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916682] F33S ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916659] I66T ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916684] N59S ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916666] Q159R ECHS1 [mitochondrial matrix] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-9916676] R54H ECHS1 [mitochondrial matrix] - Homo sapiens
inDisease	true
maxDepth	2
name	ECHS1 mutants
schemaClass	CandidateSet
species	[Species:48887] Homo sapiens
stId	R-HSA-9916709

Referrals

(hasComponent)	[Complex:R-HSA-9916711] ECHS1 mutant hexamer [mitochondrial matrix]
(activeUnit)	[CatalystActivity:9916714] enoyl-CoA hydratase activity of ECHS1 mutant hexamer [mitochondrial matrix]

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