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HK1 mutants [cytosol]
Stable Identifier
R-HSA-5621920
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 HK1 causes hexokinase deficiency (HK deficiency) (Homo sapiens)
Defective HK1 does not phosphorylate Glc to form G6P (Homo sapiens)
HK1 mutants [cytosol] (Homo sapiens)
Participants
members
HK1 H577_C672del [cytosol]
(Homo sapiens)
HK1 L529S [cytosol]
(Homo sapiens)
HK1 T680S [cytosol]
(Homo sapiens)
Disease
Name
Identifier
Synonyms
congenital nonspherocytic hemolytic anemia
DOID:2861
Congenital nonspherocytic hemolytic anemia (disorder) [Ambiguous], Hereditary nonspherocytic hemolytic anemia (disorder), hereditary nonspherocytic hemolytic anemia, HNSHA (disorder)
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