Reactome | SLC35A2 mutants [Golgi membrane]

Schema > DefinedSet > Entries

catalystActivities	[CatalystActivity:9631912] UDP-galactose transmembrane transporter activity of SLC35A2 mutants [Golgi membrane]
compartment	[Compartment:20699] Golgi membrane
created	[InstanceEdit:5652118] Jassal, Bijay, 2014-11-27
crossReference	[DatabaseIdentifier:12020999] Mondo:0800491
dbId	5652113
disease	[Disease:3656242] congenital disorder of glycosylation type II [Disease:5632824] early infantile epileptic encephalopathy
displayName	SLC35A2 mutants [Golgi membrane]
hasMember	[EntityWithAccessionedSequence:R-HSA-5652088] SLC35A2 F324Lfs25 [Golgi membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5652107] SLC35A2 G8Sfs9 [Golgi membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5652101] SLC35A2 M1? [Golgi membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5652093] SLC35A2 V331I [Golgi membrane] - Homo sapiens [EntityWithAccessionedSequence:R-HSA-5652114] SLC35A2 Y145Pfs*76 [Golgi membrane] - Homo sapiens
inDisease	true
maxDepth	2
name	SLC35A2 mutants
schemaClass	DefinedSet
species	[Species:48887] Homo sapiens
stId	R-HSA-5652113

(diseaseEntity)	[EntityFunctionalStatus:5652109] loss_of_function of SLC35A2 mutants [Golgi membrane]
(physicalEntity)	[CatalystActivity:9631912] UDP-galactose transmembrane transporter activity of SLC35A2 mutants [Golgi membrane]