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PAPSS2 mutants [cytosol]
Stable Identifier
R-HSA-3621782
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
cytosol
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 PAPSS2 causes SEMD-PA (Homo sapiens)
Defective PAPSS2 does not transfer PO4(2-) group from ATP to APS to form PAPS (Homo sapiens)
PAPSS2 mutants [cytosol] (Homo sapiens)
Defective PAPSS2 does not transfer SO4(2-) group to ATP to form APS (Homo sapiens)
PAPSS2 mutants [cytosol] (Homo sapiens)
Participants
members
PAPSS2 R329* [cytosol]
(Homo sapiens)
PAPSS2 S438* [cytosol]
(Homo sapiens)
PAPSS2 T48R [cytosol]
(Homo sapiens)
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