Reactome Pathway Database

Schema > EntityFunctionalStatus > Entries

loss_of_function of BCKDH mutant tetramer [mitochondrial matrix] Show undefined attributes

created [InstanceEdit:9865100] Rothfels, Karen, 2024年03月08日

dbId 9865105

diseaseEntity [DefinedSet:R-HSA-9918344] BCKDH mutant tetramer [mitochondrial matrix]

displayName loss_of_function of BCKDH mutant tetramer [mitochondrial matrix]

functionalStatus

[FunctionalStatus:2317386] loss_of_function via missense_variant

modified [InstanceEdit:9918756] Rothfels, Karen, 2024年08月17日

normalEntity [Complex:R-HSA-70019] BCKDH [mitochondrial matrix]

schemaClass EntityFunctionalStatus

Referrals

(entityFunctionalStatus)

[FailedReaction:R-HSA-9865121] BCKDHA or BCKDHB loss-of-function mutants don't synthesize BCAA-CoA

© 2025 Reactome

Cite Us!