Reactome | HYAL1 mutants [lysosomal lumen]

Schema > DefinedSet > Entries

catalystActivities	[CatalystActivity:9631747] hyalurononglucosaminidase activity of HYAL1 mutants [lysosomal lumen] [CatalystActivity:9631888] hyalurononglucosaminidase activity of HYAL1 mutants [lysosomal lumen]
compartment	[Compartment:161320] lysosomal lumen
created	[InstanceEdit:9832508] Orlic-Milacic, Marija, 2023-04-01
crossReference	[DatabaseIdentifier:12020936] Mondo:0019249
dbId	9832509
disease	[Disease:2226052] mucopolysaccharidosis
displayName	HYAL1 mutants [lysosomal lumen]
hasMember	[EntityWithAccessionedSequence:R-HSA-2318589] HYAL1 E268K [lysosomal lumen] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2318714] HYAL1 V251Ffs*20 [lysosomal lumen] - Homo sapiens
inDisease	true
maxDepth	2
name	HYAL1 mutants
schemaClass	DefinedSet
species	[Species:48887] Homo sapiens
stId	R-HSA-9832509

(physicalEntity)	[CatalystActivity:9631747] hyalurononglucosaminidase activity of HYAL1 mutants [lysosomal lumen] [CatalystActivity:9631888] hyalurononglucosaminidase activity of HYAL1 mutants [lysosomal lumen]
(diseaseEntity)	[EntityFunctionalStatus:2318590] loss_of_function of HYAL1 mutants [lysosomal lumen]

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