Hexokinases phosphorylate glucose to produce glucose-6-phosphate, thus committing glucose to the glycolytic pathway. Alternative splicing of this gene 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 this gene have been associated with non-insulin dependent diabetes mellitus (NIDDM), maturity onset diabetes of the young, type 2 (MODY2) and persistent hyperinsulinemic hypoglycemia of infancy (PHHI).
蛋白别名: ATP:D-hexose 6-phosphotransferase; Glucokinase; glucokinase (hexokinase 4); glucokinase variant 3; hexokinase 4; hexokinase D, pancreatic isozyme; Hexokinase type IV; Hexokinase-4; Hexokinase-D; HK IV; HK4; MEKKK 2
基因别名: FGQTL3; GCK; GK; GLK; Gls006; GLUKA; HHF3; HK4; HKIV; Hlb62; HXKP; LGLK; MODY2; RNGK2