Reactome | Defective GALM doesn't convert beta-D-GAL to alpha-D-GAL

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Defective GALM doesn't convert beta-D-GAL to alpha-D-GAL Show undefined attributes

authored	[InstanceEdit:9931863] Rothfels, Karen, 2024-12-13
catalystActivity	[CatalystActivity:9931920] aldose 1-epimerase activity of GALM mutants [cytosol]
category	transition
compartment	[Compartment:70101] cytosol
created	[InstanceEdit:9931927] Rothfels, Karen, 2024-12-13
crossReference	[DatabaseIdentifier:12020879] Mondo:0030105
dbId	9931926
disease	[Disease:9931899] galactosemia 4
displayName	Defective GALM doesn't convert beta-D-GAL to alpha-D-GAL
edited	[InstanceEdit:9931863] Rothfels, Karen, 2024-12-13
entityFunctionalStatus	[EntityFunctionalStatus:9931918] loss_of_function of GALM mutants [cytosol]
eventOf	[Pathway:R-HSA-9931929] Defective GALM causes GALAC4 - Homo sapiens
input	[SimpleEntity:R-ALL-9931855] beta-D-Gal [cytosol]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:9931879] Biallelic GALM pathogenic variants cause a novel type of galactosemia [LiteratureReference:9931884] The prevalence of GALM mutations that cause galactosemia: A database of functionally evaluated variants
maxDepth	1
modified	[InstanceEdit:9939394] Rothfels, Karen, 2025-02-26
name	Defective GALM doesn't convert beta-D-GAL to alpha-D-GAL
normalReaction	[Reaction:R-HSA-9931853] GALM converts beta-D-GAL to alpha-D-GAL
previousReviewStatus	[ReviewStatus:9821383] three stars
releaseDate	2025-03-26
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:9936506] D'Eustachio, Peter, 2025-01-23
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-9931926
summation	[Summation:9931924] Sequencing studies of galactosemia patients with no defects ...

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[Pathway:R-HSA-9931929] Defective GALM causes GALAC4

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