Reactome Pathway Database

Schema > EntityFunctionalStatus > Entries

loss_of_function of GAA mutants [lysosomal lumen] Show undefined attributes

created [InstanceEdit:5357603] D'Eustachio, Peter, 2014年03月24日

dbId 5357601

diseaseEntity [DefinedSet:R-HSA-5357599] GAA mutants [lysosomal lumen]

displayName loss_of_function of GAA mutants [lysosomal lumen]

functionalStatus

[FunctionalStatus:2317386] loss_of_function via missense_variant

modified [InstanceEdit:9631717] Wu, G, 2018年12月12日

normalEntity [DefinedSet:R-HSA-5357562] GAA (70, 76 kDa) [lysosomal lumen]

schemaClass EntityFunctionalStatus

Referrals

(entityFunctionalStatus)

[FailedReaction:R-HSA-9036729] Defective GAA does not hydrolyze lysosomal glycogen

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