Defective GCK causes maturity-onset diabetes of the young 2 (MODY2)

Stable Identifier
R-HSA-5619073
Type
Pathway
Species
Homo sapiens
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Cytosolic glucokinase (GCK) (and three isoforms of hexokinase) 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. In the body, GCK is found only in hepatocytes and pancreatic beta cells. GCK and the hexokinase enzymes differ in that GCK has a higher Km than the hexokinases and is less readily inhibited by the reaction product. As a result, GCK should be inactive in the fasting state when glucose concentrations are low but in the fed state should have an activity proportional to glucose concentration. These features are thought to enable efficient glucose uptake and retention in the liver, and to function as a sensor of glucose concentration coupled to insulin release in pancreatic beta cells. Defects in GCK are can cause maturity-onset diabetes of the young 2 (MODY2; MIM:125851), a heritable early onset form of type II diabetes (Hussain 2010, Osbak et al. 2009).

Literature References
PubMed ID Title Journal Year
19790256 Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia

Osbak, KK, Colclough, K, Saint-Martin, C, Beer, NL, Bellanné-Chantelot, C, Ellard, S, Gloyn, AL

Hum. Mutat. 2009
20878480 Mutations in pancreatic ß-cell Glucokinase as a cause of hyperinsulinaemic hypoglycaemia and neonatal diabetes mellitus

Hussain, K

Rev Endocr Metab Disord 2010
Participants
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Disease
Name Identifier Synonyms
maturity-onset diabetes of the young 0050524 MODY, MASON-TYPE DIABETES
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