Defective GYS1 does not transfer glucose to growing glycogen chains

authored
catalystActivity
catalystActivityReference [CatalystActivityReference:9643827] glycogen (starch) synthase activity of oligoGlc-GYG1:GYS1 R462* tetramer [cytosol] Identification of a novel mutation in GYS1 (muscle-specific glycogen synthase) resulting in sudden cardiac death, that is diagnosable from skin fibroblasts
category transition
compartment
created [InstanceEdit:3828059] D'Eustachio, P, 2013年07月09日
crossReference
dbId 3828061
disease
displayName Defective GYS1 does not transfer glucose to growing glycogen chains
edited
entityFunctionalStatus
eventOf
input
isChimeric false
isInDisease true
isInferred false
literatureReference
maxDepth 1
modified [InstanceEdit:9830342] Matthews, Lisa, 2023年03月08日
name
  • Defective GYS1 does not transfer glucose to growing glycogen chains
normalReaction [Reaction:R-HSA-3322001] GYS1 catalyzes the polyglucosylation of oligoGlc-GYG1
releaseDate 2015年09月22日
reviewStatus [ReviewStatus:9821382] five stars
reviewed
schemaClass FailedReaction
species
stId R-HSA-3828061
summation
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