Reactome | DBT mutant-BCKDH [mitochondrial matrix]

Schema > Complex > Entries

catalystActivities	[CatalystActivity:9865123] acyltransferase activity, transferring groups other than amino-acyl groups of DBT mutant-BCKDH [mitochondrial matrix]
compartment	[Compartment:5460] mitochondrial matrix
created	[InstanceEdit:9865100] Rothfels, Karen, 2024-03-08
crossReference	[DatabaseIdentifier:12020927] Mondo:0009563
dbId	9865106
disease	[Disease:9865030] maple syrup urine disease
displayName	DBT mutant-BCKDH [mitochondrial matrix]
hasComponent	12 × [Complex:R-HSA-70016] BCKDHA:BCKDHB tetramer [mitochondrial matrix] 24 × [CandidateSet:R-HSA-9865090] DBT mutants [mitochondrial matrix] [Complex:R-HSA-5694020] DLD dimer:2xFAD [mitochondrial matrix]
inDisease	true
literatureReference	[LiteratureReference:70020] Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease. [Book:70027] The Metabolic and Molecular Bases of Inherited Disease, 8th ed Scriver, CR Maple syrup urine disease (branched-chain ketoaciduria) 0079130356 [LiteratureReference:69983] Structure-function relationships in dihydrolipoamide acyltransferases
maxDepth	3
name	DBT mutant-BCKDH lipoylated branched-chain alpha-ketoacid dehydrogenase complex
schemaClass	Complex
species	[Species:48887] Homo sapiens
stId	R-HSA-9865106

(diseaseEntity)	[EntityFunctionalStatus:9865103] loss_of_function of DBT mutant-BCKDH [mitochondrial matrix]
(physicalEntity)	[CatalystActivity:9865123] acyltransferase activity, transferring groups other than amino-acyl groups of DBT mutant-BCKDH [mitochondrial matrix]

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