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GCK mutants [cytosol]
Stable Identifier
R-HSA-5621837
Type
Set [DefinedSet]
Species
Homo sapiens
Compartment
cytosol
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of transmembrane transporters (Homo sapiens)
SLC transporter disorders (Homo sapiens)
Defective GCK causes maturity-onset diabetes of the young 2 (MODY2) (Homo sapiens)
Defective GCK does not phosphorylate Glc to form G6P (Homo sapiens)
GCK mutants [cytosol] (Homo sapiens)
Participants
members
GCK A378T [cytosol]
(Homo sapiens)
GCK E279* [cytosol]
(Homo sapiens)
GCK E339K [cytosol]
(Homo sapiens)
GCK G229R [cytosol]
(Homo sapiens)
GCK G261R [cytosol]
(Homo sapiens)
GCK T228M [cytosol]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
maturity-onset diabetes of the young
DOID:0050524
MODY, MASON-TYPE DIABETES
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