Reactome | Defective ALDOB does not cleave Fru 1-P to GA and DHAP

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Defective ALDOB does not cleave Fru 1-P to GA and DHAP Show undefined attributes

authored	[InstanceEdit:5668966] D'Eustachio, Peter, 2015-01-29
catalystActivity	[CatalystActivity:9631907] fructose-1-phosphate aldolase activity of ALDOB mutant proteins [cytosol]
category	transition
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:5656453] D'Eustachio, Peter, 2014-12-12
dbId	5656438
disease	[Disease:5656451] hereditary fructose intolerance syndrome
displayName	Defective ALDOB does not cleave Fru 1-P to GA and DHAP
edited	[InstanceEdit:5668966] D'Eustachio, Peter, 2015-01-29
entityFunctionalStatus	[EntityFunctionalStatus:5656442] loss_of_function of ALDOB mutant proteins [cytosol]
eventOf	[Pathway:R-HSA-5657560] Hereditary fructose intolerance - Homo sapiens
input	[SimpleEntity:R-ALL-31221] Fru 1-P [cytosol]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:5675300] Hereditary fructose intolerance [LiteratureReference:5675313] Increased prevalence of mutant null alleles that cause hereditary fructose intolerance in the American population [LiteratureReference:5656437] Catalytic deficiency of human aldolase B in hereditary fructose intolerance caused by a common missense mutation [LiteratureReference:5675278] Molecular analysis of aldolase B genes in hereditary fructose intolerance [LiteratureReference:5675797] Hereditary fructose intolerance: functional study of two novel ALDOB natural variants and characterization of a partial gene deletion [LiteratureReference:5675282] The temperature dependence of activity and structure for the most prevalent mutant aldolase B associated with hereditary fructose intolerance [LiteratureReference:5675324] Structure of the thermolabile mutant aldolase B, A149P: molecular basis of hereditary fructose intolerance [LiteratureReference:5675816] Study of hereditary fructose intolerance by use of 31P magnetic resonance spectroscopy [LiteratureReference:5675318] Aldolase-B knockout in mice phenocopies hereditary fructose intolerance in humans [LiteratureReference:5656447] Expression, purification, and characterization of natural mutants of human aldolase B. Role of quaternary structure in catalysis [LiteratureReference:469704] Molecular basis of hereditary fructose intolerance: mutations and polymorphisms in the human aldolase B gene
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective ALDOB does not cleave Fru 1-P to GA and DHAP
normalReaction	[Reaction:R-HSA-70342] ALDOB tetramer cleaves Fru-1-P to GA and DHAP
releaseDate	2015-03-19
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5675821] Timson, David J, Tolan, Dean R, 2015-02-16 [InstanceEdit:5668911] Jassal, Bijay, 2015-01-29
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-5656438
summation	[Summation:5656446] Mutations in ALDOB that cause deficiency of aldolase B block...

Referrals

(hasEvent)

[Pathway:R-HSA-5657560] Hereditary fructose intolerance