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Details on Person Defective HEXB does not cleave the terminal GalNAc from keratan sulfate

Class:IdFailedReaction:9035983
_displayNameDefective HEXB does not cleave the terminal GalNAc from keratan sulfate
_doReleaseTRUE
_timestamp2019-02-25 15:56:49
authored[InstanceEdit:3656262] Jassal, B, 2013-05-31
catalystActivity[CatalystActivity:9631814] beta-N-acetylhexosaminidase activity of HEXB mutants [lysosomal lumen]
compartment[Compartment:161320] lysosomal lumen
created[InstanceEdit:3662342] Jassal, B, 2013-06-07
disease[Disease:3656251] gangliosidosis GM2
edited[InstanceEdit:3656245] Jassal, B, 2013-05-31
entityFunctionalStatus[EntityFunctionalStatus:3700925] loss_of_function of HEXB mutants [lysosomal lumen]
input[SimpleEntity:1605715] H2O [lysosomal lumen]
[SimpleEntity:2105012] GlcNAc-Gal-GlcNAc(S)-Gal [lysosomal lumen]
isChimericFALSE
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
modified[InstanceEdit:3700835] Jassal, B, 2013-06-11
[InstanceEdit:3702106] Jassal, B, 2013-06-13
[InstanceEdit:5607062] Jassal, Bijay, 2014-07-10
[InstanceEdit:5622013] Jassal, Bijay, 2014-09-08
[InstanceEdit:5671966] Jassal, Bijay, 2015-02-03
[InstanceEdit:8879177] Wu, G, 2016-07-15
[InstanceEdit:9038484] Matthews, Lisa, 2018-02-27
[InstanceEdit:9038522] Jassal, Bijay, 2018-03-01
[InstanceEdit:9631717] Wu, G, 2018-12-12
[InstanceEdit:9638080] Jassal, Bijay, 2019-02-25
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
nameDefective HEXB does not cleave the terminal GalNAc from keratan sulfate
normalReaction
releaseDate2014-09-30
reviewed[InstanceEdit:5607064] Spillmann, Dorothe, 2014-07-09
reviewStatus[ReviewStatus:9821382] five stars
species[Species:48887] Homo sapiens
stableIdentifier[StableIdentifier:9035986] R-HSA-9035983.3
summation[Summation:3662343] There are two forms of HEX; HEXA and B. The A form is a trim...
(hasEvent)[Pathway:9953284] Defective HEXB causes GM2G2 (Keratan metabolism) [Homo sapiens]
(updatedInstance)[_UpdateTracker:9778028] Update Tracker - [FailedReaction:9035983] Defective HEXB does not cleave the terminal GalNAc from keratan sulfate - v68:[addCatalystActivity]
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