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GCK glucokinase

Gene ID: 2645, updated on 23-Nov-2021
Gene type: protein coding
Also known as: GK; GLK; HK4; HHF3; HKIV; HXKP; LGLK; MODY2; PNDM1; FGQTL3

Summary

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]

Associated conditions

See all available tests in GTR for this gene

DescriptionTests
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
GeneReviews: Not available
A study assessing the association of glycated hemoglobin A1C (HbA1C) associated variants with HbA1C, chronic kidney disease and diabetic retinopathy in populations of Asian ancestry.
GeneReviews: Not available
Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways.
GeneReviews: Not available
Genome-wide association meta-analysis identifies novel variants associated with fasting plasma glucose in East Asians.
GeneReviews: Not available
Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.
GeneReviews: Not available
Hyperinsulinism due to glucokinase deficiency
MedGen: C1865290OMIM: 602485GeneReviews: Familial Hyperinsulinism
See labs
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
GeneReviews: Not available
Maturity-onset diabetes of the young, type 2See labs
Multiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
GeneReviews: Not available
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
GeneReviews: Not available
New susceptibility loci in MYL2, C12orf51 and OAS1 associated with 1-h plasma glucose as predisposing risk factors for type 2 diabetes in the Korean population.
GeneReviews: Not available
Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study.
GeneReviews: Not available
Permanent neonatal diabetes mellitusSee labs
Permanent neonatal diabetes mellitus 1See labs
Type 2 diabetes mellitus
MedGen: C0011860OMIM: 125853GeneReviews: Not available
See labs
Variants in MTNR1B influence fasting glucose levels.
GeneReviews: Not available

Genomic context

Location:
7p13
Sequence:
Chromosome: 7; NC_000007.14 (44143213..44189439, complement)
Total number of exons:
15

Links

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