Reactome | Defective HEXB does not cleave the terminal GalNAc from HA fragments

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Defective HEXB does not cleave the terminal GalNAc from HA fragments Show undefined attributes

authored	[InstanceEdit:3656262] Jassal, B, 2013-05-31
catalystActivity	[CatalystActivity:9631726] beta-N-acetylhexosaminidase activity of HEXB mutants [lysosomal lumen]
category	transition
compartment	[Compartment:161320] lysosomal lumen
created	[InstanceEdit:3662342] Jassal, B, 2013-06-07
crossReference	[DatabaseIdentifier:12020888] Mondo:0017720
dbId	9035982
disease	[Disease:3656251] gangliosidosis GM2
displayName	Defective HEXB does not cleave the terminal GalNAc from HA fragments
edited	[InstanceEdit:3656245] Jassal, B, 2013-05-31
entityFunctionalStatus	[EntityFunctionalStatus:3700925] loss_of_function of HEXB mutants [lysosomal lumen]
eventOf	[Pathway:R-HSA-3656248] Defective HEXB causes GM2G2 (Hyaluronan metabolism) - Homo sapiens
input	[OtherEntity:R-ALL-2162223] GlcNAc-GlcA-GlcNAc [lysosomal lumen] [SimpleEntity:R-ALL-1605715] H2O [lysosomal lumen]
isChimeric	false
isInDisease	true
isInferred	false
literatureReference	[LiteratureReference:1605668] Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease [LiteratureReference:3700927] Structure and distribution of an Alu-type deletion mutation in Sandhoff disease [LiteratureReference:3700914] Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis [LiteratureReference:3700943] A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease [LiteratureReference:3700873] Molecular and functional analysis of the HEXB gene in Italian patients affected with Sandhoff disease: identification of six novel alleles [LiteratureReference:3700860] Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community
maxDepth	1
modified	[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
name	Defective HEXB does not cleave the terminal GalNAc from HA fragments
normalReaction	[Reaction:R-HSA-9638076] HEXB cleaves the terminal GlcNAc from small HA fragments
releaseDate	2014-09-30
reviewStatus	[ReviewStatus:9821382] five stars
reviewed	[InstanceEdit:5607064] Spillmann, Dorothe, 2014-07-09
schemaClass	FailedReaction
species	[Species:48887] Homo sapiens
stId	R-HSA-9035982
summation	[Summation:3662343] There are two forms of HEX; HEXA and B. The A form is a trim...
updateTrackers	[UpdateTracker:9778587] Update Tracker - [FailedReaction:9035982] Defective HEXB does not cleave the terminal GalNAc from HA fragments - v68:[addCatalystActivity]

Referrals

(updatedInstance)	[UpdateTracker:9778587] Update Tracker - [FailedReaction:9035982] Defective HEXB does not cleave the terminal GalNAc from HA fragments - v68:[addCatalystActivity]
(hasEvent)	[Pathway:R-HSA-3656248] Defective HEXB causes GM2G2 (Hyaluronan metabolism)

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