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HEXB mutants [lysosomal lumen]
Stable Identifier
R-HSA-3700928
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
lysosomal lumen
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of metabolism (Homo sapiens)
Diseases of glycosylation (Homo sapiens)
Diseases associated with glycosaminoglycan metabolism (Homo sapiens)
Defective HEXB causes GM2G2 (Homo sapiens)
Defective HEXB does not cleave the terminal GalNAc from DS (Homo sapiens)
HEXB mutants [lysosomal lumen] (Homo sapiens)
Defective HEXB does not cleave the terminal GalNAc from HA fragments (Homo sapiens)
HEXB mutants [lysosomal lumen] (Homo sapiens)
Defective HEXB does not cleave the terminal GalNAc from keratan sulfate (Homo sapiens)
HEXB mutants [lysosomal lumen] (Homo sapiens)
Participants
members
HEXB I322Kfs*5 [lysosomal lumen]
(Homo sapiens)
HEXB M26Cfs*5 [lysosomal lumen]
(Homo sapiens)
HEXB R284* [lysosomal lumen]
(Homo sapiens)
HEXB S62L [lysosomal lumen]
(Homo sapiens)
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