Reactome | SI mutant dimers [plasma membrane]

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SI mutant dimers [plasma membrane] Show undefined attributes

catalystActivities	[CatalystActivity:9631884] alpha-1,4-glucosidase activity of SI mutant dimers [plasma membrane] [CatalystActivity:9631871] alpha-1,4-glucosidase activity of SI mutant dimers [plasma membrane] [CatalystActivity:9631941] alpha-1,4-glucosidase activity of SI mutant dimers [plasma membrane] [CatalystActivity:9631835] sucrose alpha-glucosidase activity of SI mutant dimers [plasma membrane]
compartment	[Compartment:876] plasma membrane
created	[InstanceEdit:5659876] D'Eustachio, Peter, 2014-12-23
crossReference	[DatabaseIdentifier:12020943] Mondo:0004905
dbId	5659923
disease	[Disease:5659880] intestinal disaccharidase deficiency
displayName	SI mutant dimers [plasma membrane]
hasMember	[Complex:R-HSA-5659911] sucrase-isomaltase dimer C1229Y [plasma membrane] - Homo sapiens [Complex:R-HSA-5659914] sucrase-isomaltase dimer Q1098P [plasma membrane] - Homo sapiens [Complex:R-HSA-5659887] sucrase-isomaltase dimer Q117R [plasma membrane] - Homo sapiens
inDisease	true
literatureReference	[LiteratureReference:5659897] Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment [LiteratureReference:5659889] Novel mutations in the human sucrase-isomaltase gene (SI) that cause congenital carbohydrate malabsorption [LiteratureReference:5659881] Molecular basis of aberrant apical protein transport in an intestinal enzyme disorder
maxDepth	4
name	SI mutant dimers
schemaClass	DefinedSet
species	[Species:48887] Homo sapiens
stId	R-HSA-5659923

Referrals

(physicalEntity)	[CatalystActivity:9631884] alpha-1,4-glucosidase activity of SI mutant dimers [plasma membrane] [CatalystActivity:9631871] alpha-1,4-glucosidase activity of SI mutant dimers [plasma membrane] [CatalystActivity:9631941] alpha-1,4-glucosidase activity of SI mutant dimers [plasma membrane] [CatalystActivity:9631835] sucrose alpha-glucosidase activity of SI mutant dimers [plasma membrane]
(diseaseEntity)	[EntityFunctionalStatus:5659891] loss_of_function of SI mutant dimers [plasma membrane]

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