GCK gene


The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Diabetes mellitus type 2
  • Maturity-onset diabetes of the young, type 2
  • Permanent neonatal diabetes mellitus
  • Hyperinsulinemic hypoglycemia familial 3

From UniProt:

Familial hyperinsulinemic hypoglycemia 3 (HHF3): Most common cause of persistent hypoglycemia in infancy. Unless early and aggressive intervention is undertaken, brain damage from recurrent episodes of hypoglycemia may occur. [MIM:602485]

Maturity-onset diabetes of the young 2 (MODY2): A form of diabetes that is characterized by an autosomal dominant mode of inheritance, onset in childhood or early adulthood (usually before 25 years of age), a primary defect in insulin secretion and frequent insulin-independence at the beginning of the disease. [MIM:125851]

Cytogenetic Location: 7p13, which is the short (p) arm of chromosome 7 at position 13

Molecular Location: base pairs 44,143,213 to 44,189,439 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7p13, which is the short (p) arm of chromosome 7 at position 13
  • FGQTL3
  • GK
  • GLK
  • HHF3
  • HK4
  • HKIV
  • HXKP
  • LGLK
  • MODY2