Defective ABCD4:LMBRD1 does not transport Cbl from lysosomal lumen to cytosol

authored
catalystActivity
catalystActivityReference [CatalystActivityReference:9730741] ABC-type vitamin B12 transporter activity of ABCD4 mutant:LBRD1 complexes [lysosomal membrane] Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism
category transition
compartment
created [InstanceEdit:5683328] Jassal, Bijay, 2015-03-13
dbId 5683325
disease
displayName Defective ABCD4:LMBRD1 does not transport Cbl from lysosomal lumen to cytosol
edited
entityFunctionalStatus
eventOf
input
isChimeric false
isInDisease true
isInferred false
literatureReference
modified [InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name
  • Defective ABCD4:LMBRD1 does not transport Cbl from lysosomal lumen to cytosol
normalReaction [Reaction:R-HSA-5223313] ABCD4:LMBRD1 transports RCbl from lysosomal lumen to cytosol (gut mucosal cells)
releaseDate 2015-12-15
reviewStatus [ReviewStatus:9821382] five stars
reviewed
revised
schemaClass FailedReaction
species
stId R-HSA-5683325
summation
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