Reactome | R197* AUH [mitochondrial matrix]

Schema > EntityWithAccessionedSequence > Entries

compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9914318] Rothfels, Karen, 2024-06-23
crossReference	[DatabaseIdentifier:12020919] Mondo:0017359 [DatabaseIdentifier:9914321] ClinGen:PA120087
dbId	9914323
disease	[Disease:9914268] 3-methylglutaconic aciduria
displayName	R197* AUH [mitochondrial matrix]
endCoordinate	196
hasModifiedResidue	[NonsenseMutation:9914317] Nonsense mutation at L-arginine 197
inDisease	true
literatureReference	[LiteratureReference:70776] 3-Methylglutaconic aciduria type I is caused by mutations in AUH. [LiteratureReference:70789] Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria [LiteratureReference:9914296] Mutations in the AUH gene cause 3-methylglutaconic aciduria type I [LiteratureReference:9914286] 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy
maxDepth	1
memberOf	[DefinedSet:R-HSA-9914265] AUH mutants [mitochondrial matrix] - Homo sapiens
modified	[InstanceEdit:9967561] D'Eustachio, Peter, 2025-09-30
name	R197* AUH methylglutaconyl-CoA hydratase AU RNA binding protein
referenceEntity	[ReferenceGeneProduct:uniprot:Q13825] UniProt:Q13825 AUH
referenceType	ReferenceGeneProduct
schemaClass	EntityWithAccessionedSequence
species	[Species:48887] Homo sapiens
stId	R-HSA-9914323
startCoordinate	68
updateTrackers	[UpdateTracker:9972364] Update Tracker - [EntityWithAccessionedSequence:9914323] R197* AUH [mitochondrial matrix] - v95:[modifyEndCoordinate]

(updatedInstance)	[UpdateTracker:9972364] Update Tracker - [EntityWithAccessionedSequence:9914323] R197* AUH [mitochondrial matrix] - v95:[modifyEndCoordinate]
(hasMember)	[DefinedSet:R-HSA-9914265] AUH mutants [mitochondrial matrix]

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