Aliases for GCK Gene
External Ids for GCK Gene
Previous HGNC Symbols for GCK Gene
Previous GeneCards Identifiers for GCK Gene
This gene encodes a member of the hexokinase family of proteins. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. 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. The use of multiple promoters and alternative splicing of this gene result in distinct protein isoforms that exhibit tissue-specific expression in the pancreas and liver. In the pancreas, this enzyme plays a role in glucose-stimulated insulin secretion, while in the liver, this enzyme is important in glucose uptake and conversion to glycogen. Mutations in this gene that alter enzyme activity have been associated with multiple types of diabetes and hyperinsulinemic hypoglycemia. [provided by RefSeq, Aug 2017]
GeneCards Summary for GCK Gene
GCK (Glucokinase) is a Protein Coding gene. Diseases associated with GCK include Hyperinsulinemic Hypoglycemia, Familial, 3 and Maturity-Onset Diabetes Of The Young, Type 2. Among its related pathways are Glucose metabolism and Glycosaminoglycan metabolism. Gene Ontology (GO) annotations related to this gene include magnesium ion binding and phosphotransferase activity, alcohol group as acceptor. An important paralog of this gene is HK2.
UniProtKB/Swiss-Prot for GCK Gene
Catalyzes the initial step in utilization of glucose by the beta-cell and liver at physiological glucose concentration. Glucokinase has a high Km for glucose, and so it is effective only when glucose is abundant. The role of GCK is to provide G6P for the synthesis of glycogen. Pancreatic glucokinase plays an important role in modulating insulin secretion. Hepatic glucokinase helps to facilitate the uptake and conversion of glucose by acting as an insulin-sensitive determinant of hepatic glucose usage.