GCK
LOCUS ID2645
GENE_SYMBOLGCK
GENE NAMEglucokinase (hexokinase 4)
SYNONYMNSGK, GLK, HK4, HHF3, HKIV, HXKP, LGLK, MODY2, FGQTL
CHROMOSOME7
HOMOLOGENE ID55440
DiseaseType 2 diabetes
PMIDs12941786
GENE SUMMARY
Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. 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). [provided by RefSeq, Apr 2009]

OBSERVATIONS
In vitro studies confirm the validity of structural and functional models of GCK and the putative allosteric activator site, which is a potential drug target for the treatment of type 2 diabetes.