Reactome | Defective GNS does not hydrolyse 6-sulfate from GlcNAc6S

Schema > FailedReaction > Entries

Defective GNS does not hydrolyse 6-sulfate from GlcNAc6S Show undefined attributes

authored	[InstanceEdit:2263489] Jassal, B, 2012-05-21
catalystActivity	[CatalystActivity:9631792] N-acetylglucosamine-6-sulfatase activity of GNS mutants [lysosomal lumen]
category	transition
compartment	[Compartment:161320] lysosomal lumen
created	[InstanceEdit:2263489] Jassal, B, 2012-05-21
crossReference	[DatabaseIdentifier:12020937] Mondo:0018937
dbId	2263495
disease	[Disease:2226064] mucopolysaccharidosis III
displayName	Defective GNS does not hydrolyse 6-sulfate from GlcNAc6S
edited	[InstanceEdit:2263489] Jassal, B, 2012-05-21
entityFunctionalStatus	[EntityFunctionalStatus:2263493] loss_of_function of GNS mutants [lysosomal lumen]
eventOf	[Pathway:R-HSA-2206305] MPS IIID - Sanfilippo syndrome D - Homo sapiens
input	[SimpleEntity:R-ALL-2104995] GlcNAc(S)-Gal-GlcNAc(S)-Gal [lysosomal lumen] [SimpleEntity:R-ALL-1605715] H2O [lysosomal lumen]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:2245317] Sanfilippo syndrome type D: natural history and identification of 3 novel mutations in the GNS Gene [LiteratureReference:2245311] Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID) [LiteratureReference:1638066] Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations [LiteratureReference:2245255] Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective GNS does not hydrolyse 6-sulfate from GlcNAc6S Defective GNS does not hydrolyse 6-sulfate from N-acetylglucosamine 6-sulfate of KS
normalReaction	[Reaction:R-HSA-1638032] GNS:Ca2+ cleaves sulfate from GlcNAc-6-sulfate units of keratan sulfate
releaseDate	2012-09-18
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:2457644] Coutinho, Maria, 2012-08-27 [InstanceEdit:2457645] Alves, Sandra, 2012-08-27 [InstanceEdit:2457646] Matos, Liliana, 2012-08-27
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-2263495
summation	[Summation:2263497] Due to the rarity of this disease, only approximately 20 mut...
updateTrackers	[UpdateTracker:9778016] Update Tracker - [FailedReaction:2263495] Defective GNS does not hydrolyse 6-sulfate from GlcNAc6S - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9778016] Update Tracker - [FailedReaction:2263495] Defective GNS does not hydrolyse 6-sulfate from GlcNAc6S - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-2206305] MPS IIID - Sanfilippo syndrome D

Cite Us!