Reactome | HGSNAT mutants [lysosomal membrane]

Schema > DefinedSet > Entries

catalystActivities	[CatalystActivity:9631733] heparan-alpha-glucosaminide N-acetyltransferase activity of HGSNAT mutants [lysosomal membrane] [CatalystActivity:9631900] heparan-alpha-glucosaminide N-acetyltransferase activity of HGSNAT mutants [lysosomal membrane]
compartment	[Compartment:17938] lysosomal membrane
created	[InstanceEdit:2245234] Jassal, B, 2012-05-11
crossReference	[DatabaseIdentifier:12020936] Mondo:0019249
dbId	2245239
disease	[Disease:2226052] mucopolysaccharidosis
displayName	HGSNAT mutants [lysosomal membrane]
hasMember	[EntityWithAccessionedSequence:R-HSA-2245233] HGSNAT R344C [lysosomal membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2245250] HGSNAT R384* [lysosomal membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2245230] HGSNAT S518F [lysosomal membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-2245245] HGSNAT W403C;A615T [lysosomal membrane] - Homo sapiens
inDisease	true
maxDepth	2
modified	[InstanceEdit:2581471] Jassal, Bijay, 2012-11-13
name	HGSNAT mutants
schemaClass	DefinedSet
species	[Species:48887] Homo sapiens
stId	R-HSA-2245239
updateTrackers	[UpdateTracker:9874359] Update Tracker - [DefinedSet:2245239] HGSNAT mutants [lysosomal membrane] - v43:[addDisease]

(updatedInstance)	[UpdateTracker:9874359] Update Tracker - [DefinedSet:2245239] HGSNAT mutants [lysosomal membrane] - v43:[addDisease]
(physicalEntity)	[CatalystActivity:9631733] heparan-alpha-glucosaminide N-acetyltransferase activity of HGSNAT mutants [lysosomal membrane] [CatalystActivity:9631900] heparan-alpha-glucosaminide N-acetyltransferase activity of HGSNAT mutants [lysosomal membrane]
(diseaseEntity)	[EntityFunctionalStatus:2263491] loss_of_function of HGSNAT mutants [lysosomal membrane]