glucokinase
Ultimo aggiornamento 19 Lug 2023
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The GCK gene provides instructions for making a protein called glucokinase. This protein plays an important role in the breakdown of sugars (particularly glucose) in the body. Glucokinase is primarily found in the liver and in beta cells in the pancreas. Beta cells produce and release (secrete) the hormone insulin, which helps regulate blood glucose levels by controlling how much glucose is passed from the bloodstream into cells to be used as energy. Glucokinase acts as a sensor, recognizing when the level of glucose in the blood rises and helping stimulate the release of insulin from beta cells to control it. In the liver, glucokinase helps determine when excess glucose should be taken in and converted to glycogen, which is a major source of stored energy in the body.
Normal function
The GCK gene provides instructions for making a protein called glucokinase. This protein plays an important role in the breakdown of sugars (particularly glucose) in the body. Glucokinase is primarily found in the liver and in beta cells in the pancreas. Beta cells produce and release (secrete) the hormone insulin, which helps regulate blood glucose levels by controlling how much glucose is passed from the bloodstream into cells to be used as energy. Glucokinase acts as a sensor, recognizing when the level of glucose in the blood rises and helping stimulate the release of insulin from beta cells to control it. In the liver, glucokinase helps determine when excess glucose should be taken in and converted to glycogen, which is a major source of stored energy in the body.
Conditions referring to this gene or chromosome
Altri nomi
ATP:D-glucose 6-phosphotransferase
HEXOKINASE 4
Hexokinase type IV
HK4
Ulteriori letture e riferimenti
- glucokinase; MedlinePlus, National Library of Medicine.
- Froguel P, Zouali H, Vionnet N, Velho G, Vaxillaire M, Sun F, Lesage S, Stoffel M, Takeda J, Passa P, et al. Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. N Engl J Med. 1993 Mar 11;328(10):697-702. doi: 10.1056/NEJM199303113281005.
- Negahdar M, Aukrust I, Molnes J, Solheim MH, Johansson BB, Sagen JV, Dahl-Jorgensen K, Kulkarni RN, Sovik O, Flatmark T, Njolstad PR, Bjorkhaug L. GCK-MODY diabetes as a protein misfolding disease: the mutation R275C promotes protein misfolding, self-association and cellular degradation. Mol Cell Endocrinol. 2014 Jan 25;382(1):55-65. doi: 10.1016/j.mce.2013.08.020. Epub 2013 Aug 31.
- Osbak KK, Colclough K, Saint-Martin C, Beer NL, Bellanne-Chantelot C, Ellard S, Gloyn AL. Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia. Hum Mutat. 2009 Nov;30(11):1512-26. doi: 10.1002/humu.21110.
- Steele AM, Shields BM, Wensley KJ, Colclough K, Ellard S, Hattersley AT. Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia. JAMA. 2014 Jan 15;311(3):279-86. doi: 10.1001/jama.2013.283980.
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