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Details on Person loss_of_function of SGSH mutants:Ca2+ [lysosomal lumen]

Class:IdEntityFunctionalStatus:2263454
_displayNameloss_of_function of SGSH mutants:Ca2+ [lysosomal lumen]
_timestamp2025-05-29 18:01:53
created[InstanceEdit:2263452] Jassal, B, 2012-05-21
diseaseEntity[Complex:9953223] SGSH mutants:Ca2+ [lysosomal lumen] [Homo sapiens]
functionalStatus[FunctionalStatus:2250307] loss_of_function via point_mutation
modified[InstanceEdit:3731117] Wu, G, 2013-06-17
[InstanceEdit:3731118] Wu, G, 2013-06-17
[InstanceEdit:9631717] Wu, G, 2018-12-12
[InstanceEdit:9953224] Stephan, Ralf, 2025-05-29
normalEntity[Complex:9941506] SGSH:Ca2+ [lysosomal lumen] [Homo sapiens]
(entityFunctionalStatus)[FailedReaction:2263444] Defective SGSH does not hydrolyse Heparan sulfate chain(7) [Homo sapiens]
[FailedReaction:9036050] Defective SGSH does not hydrolyse Heparan sulfate chain(2) [Homo sapiens]
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No pathways have been reviewed or authored by loss_of_function of SGSH mutants:Ca2+ [lysosomal lumen] (2263454)