Aliases for GCK Gene
External Ids for GCK Gene
Previous HGNC Symbols for GCK Gene
Previous GeneCards Identifiers for GCK Gene
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]
GeneCards Summary for GCK Gene
GCK (Glucokinase) is a Protein Coding gene. Diseases associated with GCK include Hyperinsulinemic Hypoglycemia, Familial, 3 and Mody, Type Ii. Among its related pathways are Glucagon signaling pathway and Insulin secretion. 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.