Hexokinases phosphorylate glucose to produce glucose-6-phosphate, thus committing glucose to the glycolytic pathway. Alternative splicing of the gene for GCK results in three tissue-specific forms of glucokinase, one found in pancreatic islet beta cells and two found in liver. The protein localizes to the outer membrane of mitochondria. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. Mutations in the gene have been associated with non-insulin dependent diabetes mellitus (NIDDM), also called maturity onset diabetes of the young, type 2 (MODY2); mutations have also been associated with persistent hyperinsulinemic hypoglycemia of infancy (PHHI).
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Protein Aliases: ATP:D-hexose 6-phosphotransferase; Glucokinase; glucokinase (hexokinase 4); glucokinase variant 3; Hexokinase D; hexokinase D, pancreatic isozyme; Hexokinase type IV; Hexokinase-4; Hexokinase-D; HK IV; HK4
Gene Aliases: FGQTL3; GCK; GK; GLK; GLUKA; HHF3; HK4; HKIV; HXKP; LGLK; MODY2; RNGK2