Defective HK1 does not phosphorylate Glc to form G6P

Stable Identifier
R-HSA-5621888
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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. Mutations causing HK deficiency are a compound heterozygote (a 96bp deletion and L529S) and T680S (Bianchi & Magnani, van Wijk et al. 2003).

Literature References
PubMed ID Title Journal Year
12393545 HK Utrecht: missense mutation in the active site of human hexokinase associated with hexokinase deficiency and severe nonspherocytic hemolytic anemia

van Wijk, R, Rijksen, G, Huizinga, EG, Nieuwenhuis, HK, van Solinge, WW

Blood 2003
7655856 Hexokinase mutations that produce nonspherocytic hemolytic anemia

Bianchi, M, Magnani, M

Blood Cells Mol. Dis. 1995
Participants
Participates
Catalyst Activity

glucokinase activity of HK1 mutants [cytosol]

Normal reaction
Functional status

Loss of function of HK1 mutants [cytosol]

Status
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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