Gene: GCK

Alternate names for this Gene: FGQTL3|GK|GLK|HHF3|HK4|HKIV|HXKP|LGLK|MODY2|PNDM1

Gene 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7p13

Description of this Gene: glucokinase

Type of Gene: protein-coding

Gene: LOC105375258

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

rs80356654 in GCK;LOC105375258 gene and DIABETES MELLITUS, PERMANENT NEONATAL PMID 11372010 2001 Neonatal diabetes mellitus due to complete glucokinase deficiency.

PMID 25015100 2014 Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

rs104894005 in GCK;LOC105375258 gene and Diabetes mellitus autosomal dominant type II (disorder) PMID 8168652 1994 Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique.

PMID 25015100 2014 Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

PMID 10588527 1999 Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY.

PMID 10694920 1998 Three novel missense mutations in the glucokinase gene (G80S; E221K; G227C) in Italian subjects with maturity-onset diabetes of the young (MODY). Mutations in brief no. 162. Online.

PMID 9662401 1998 Mutations in the glucokinase gene of the fetus result in reduced birth weight.

PMID 8878425 1996 Impaired hepatic glycogen synthesis in glucokinase-deficient (MODY-2) subjects.

PMID 22611063 2012 Insights into the pathogenicity of rare missense GCK variants from the identification and functional characterization of compound heterozygous and double mutations inherited in cis.

PMID 1303265 1992 Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes.

PMID 18322640 2008 In this work, we describe the biochemical characterization of six missense glucokinase mutations associated with MODY2 from Spanish patients, namely, Y61S, V182L, C233R, E265K, A379V, and K420E.

PMID 1464666 1992 Structure of the human glucokinase gene and identification of a missense mutation in a Japanese patient with early-onset non-insulin-dependent diabetes mellitus.

PMID 9049484 1997 Identification of 14 new glucokinase mutations and description of the clinical profile of 42 MODY-2 families.

PMID 8325892 1993 Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants.

PMID 8495817 1993 Identification of glucokinase mutations in subjects with gestational diabetes mellitus.

PMID 1502186 1992 Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus.

PMID 17573900 2007 Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.

PMID 16965331 2006 Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.

PMID 19884385 2009 Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

PMID 11372010 2001 Neonatal diabetes mellitus due to complete glucokinase deficiency.

PMID 11106831 2000 Identification of glucokinase mutation in subjects with post-renal transplantation diabetes mellitus.

PMID 8446612 1993 Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships.

PMID 11508276 2001 High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI.

PMID 10753050 2000 A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.

PMID 16444761 2006 Glucokinase mutations in young children with hyperglycemia.

PMID 19309449 2009 Mild fasting hyperglycemia in children: high rate of glucokinase mutations and some risk of developing type 1 diabetes mellitus.

PMID 18411240 2008 Long-term follow-up of oral glucose tolerance test-derived glucose tolerance and insulin secretion and insulin sensitivity indexes in subjects with glucokinase mutations (MODY2).

PMID 18382660 2008 Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.

PMID 16632067 2006 Genetic and clinical characteristics of Korean maturity-onset diabetes of the young (MODY) patients.

PMID 18399931 2008 Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.

PMID 23295292 2012 Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects.

PMID 19790256 2009 Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

PMID 18322640 2008 Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.

PMID 22060211 2012 Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus.

rs2268575 in GCK;LOC105375258 gene and Fasting blood glucose measurement PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

PMID 31021400 2019 Pleiotropy informed adaptive association test of multiple traits using genome-wide association study summary data.

rs2268575 in GCK;LOC105375258 gene and Fasting blood sugar result PMID 22885924 2012 Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways.

rs1057524903 in GCK;LOC105375258 gene and Hyperglycemia PMID 21104275 2011 Insight into the biochemical characteristics of a novel glucokinase gene mutation.

PMID 18399931 2008 Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.

PMID 16731834 2006 From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.

PMID 10753050 2000 A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.

PMID 16965331 2006 Identification of novel and recurrent glucokinase mutations in Belgian and Luxembourg maturity onset diabetes of the young patients.

PMID 18411240 2008 Long-term follow-up of oral glucose tolerance test-derived glucose tolerance and insulin secretion and insulin sensitivity indexes in subjects with glucokinase mutations (MODY2).

PMID 16632067 2006 Genetic and clinical characteristics of Korean maturity-onset diabetes of the young (MODY) patients.

PMID 22060211 2012 Comprehensive molecular analysis of Japanese patients with pediatric-onset MODY-type diabetes mellitus.

PMID 11508276 2001 High prevalence of glucokinase mutations in Italian children with MODY. Influence on glucose tolerance, first-phase insulin response, insulin sensitivity and BMI.

PMID 23295292 2012 Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects.

PMID 18382660 2008 Glucokinase gene mutations: structural and genotype-phenotype analyses in MODY children from South Italy.

PMID 19309449 2009 Mild fasting hyperglycemia in children: high rate of glucokinase mutations and some risk of developing type 1 diabetes mellitus.

PMID 16444761 2006 Glucokinase mutations in young children with hyperglycemia.

PMID 19790256 2009 Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

rs104894015 in GCK;LOC105375258 gene and Hyperinsulinemic hypoglycemia, familial, 3 PMID 9435328 1998 Familial hyperinsulinism caused by an activating glucokinase mutation.

PMID 17082186 2006 Biochemical basis of glucokinase activation and the regulation by glucokinase regulatory protein in naturally occurring mutations.

PMID 20375417 2010 Large islets, beta-cell proliferation, and a glucokinase mutation.

PMID 15277402 2004 Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.

PMID 19884385 2009 Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene.

PMID 28247534 2017 Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization.

PMID 11916951 2002 The second activating glucokinase mutation (A456V): implications for glucose homeostasis and diabetes therapy.

PMID 12941786 2003 Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.

rs1057524903 in GCK;LOC105375258 gene and Monogenic diabetes PMID 16731834 2006 From clinicogenetic studies of maturity-onset diabetes of the young to unraveling complex mechanisms of glucokinase regulation.

PMID 18399931 2008 Diagnostic screening of MODY2/GCK mutations in the Norwegian MODY Registry.

PMID 21104275 2011 Insight into the biochemical characteristics of a novel glucokinase gene mutation.