Defective HK1 causes hexokinase deficiency (HK deficiency)

Stable Identifier
R-HSA-5619056
Type
Pathway
Species
Homo sapiens
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Cytosolic hexokinase 1 (HK1), together with isoforms HK2 and 3 and glucokinase (GCK), catalyse the irreversible reaction of alpha-D-glucose (Glc) and ATP to form alpha-D-glucose-6-phosphate (G6P) and ADP, the first step in glycolysis. HK1 is the predominant isoform of the different HKs in tissues that utilise glucose for their physiological function such as brain, lymphocytes, erythrocytes, platelets and fibroblasts. Defects in HK1 can cause hexokinase deficiency (HK deficiency; MIM:235700), a rare, autosomal recessive disease with nonspherocytic hemolytic anemia as the predominant clinical feature (Kanno 2000).

Literature References
PubMed ID Title Journal Year
10916679 Hexokinase: gene structure and mutations

Kanno, H

Baillieres Best Pract. Res. Clin. Haematol. 2000
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Disease
Name Identifier Synonyms
congenital nonspherocytic hemolytic anemia 2861 Congenital nonspherocytic hemolytic anemia (disorder) [Ambiguous], Hereditary nonspherocytic hemolytic anemia (disorder), hereditary nonspherocytic hemolytic anemia, HNSHA (disorder)
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