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

Class:IdFailedReaction:9035978
_displayNameDefective HEXA does not cleave the terminal GalNAc from keratan sulfate
_doReleaseTRUE
_timestamp2019-02-25 15:56:22
authored[InstanceEdit:3656262] Jassal, B, 2013-05-31
catalystActivity[CatalystActivity:9638073] beta-N-acetylhexosaminidase activity of HEXA Y427Ifs*5 [lysosomal lumen]
compartment[Compartment:161320] lysosomal lumen
created[InstanceEdit:3656262] Jassal, B, 2013-05-31
disease[Disease:3656252] gangliosidosis GM1
edited[InstanceEdit:3656245] Jassal, B, 2013-05-31
entityFunctionalStatus[EntityFunctionalStatus:3700907] loss_of_function of HEXA Y427Ifs*5 [lysosomal lumen]
input[SimpleEntity:1605715] H2O [lysosomal lumen]
[SimpleEntity:2105012] GlcNAc-Gal-GlcNAc(S)-Gal [lysosomal lumen]
isChimericFALSE
literatureReference[LiteratureReference:1605612] A point mutation in the coding sequence of the beta-hexosaminidase alpha gene results in defective processing of the enzyme protein in an unusual GM2-gangliosidosis variant
[LiteratureReference:3700866] Ganglioside GM2 storage diseases: hexosaminidase deficiencies in cultured fibroblasts
[LiteratureReference:3700950] The major defect in Ashkenazi Jews with Tay-Sachs disease is an insertion in the gene for the alpha-chain of beta-hexosaminidase
[LiteratureReference:3700969] Splice junction mutation in some Ashkenazi Jews with Tay-Sachs disease: evidence against a single defect within this ethnic group
[LiteratureReference:3700951] Identification of an altered splice site in Ashkenazi Tay-Sachs disease
[LiteratureReference:3700869] The mutations in Ashkenazi Jews with adult GM2 gangliosidosis, the adult form of Tay-Sachs disease
[LiteratureReference:3700963] Beta-hexosaminidase: biosynthesis and processing of the normal enzyme, and identification of mutations causing Jewish Tay-Sachs disease
modified[InstanceEdit:3656274] Jassal, B, 2013-05-31
[InstanceEdit:3656275] Jassal, B, 2013-05-31
[InstanceEdit:3662342] Jassal, B, 2013-06-07
[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:9035984] Jassal, Bijay, 2018-01-26
[InstanceEdit:9038484] Matthews, Lisa, 2018-02-27
[InstanceEdit:9038517] Jassal, Bijay, 2018-03-01
[InstanceEdit:9038530] Shamovsky, Veronica, 2018-03-03
[InstanceEdit:9638080] Jassal, Bijay, 2019-02-25
[InstanceEdit:9830342] Matthews, Lisa, 2023-03-08
nameDefective HEXA 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:9035981] R-HSA-9035978.3
summation[Summation:9035977] Beta-hexosaminidase A (HEXA) cleaves the terminal N-acetyl g...
(hasEvent)[Pathway:9953285] Defective HEXA causes GM2G1 (Keratan metabolism) [Homo sapiens]
(updatedInstance)[_UpdateTracker:9778427] Update Tracker - [FailedReaction:9035978] Defective HEXA does not cleave the terminal GalNAc from keratan sulfate - v68:[addCatalystActivity]
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