Gene: LOC105375258

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

Type of Gene:

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

rs104894008 in LOC105375258;GCK gene and DIABETES MELLITUS, PERMANENT NEONATAL PMID 25015100 2014 Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability.

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

rs104894008 in LOC105375258;GCK gene and Diabetes mellitus autosomal dominant type II (disorder) PMID 11106831 2000 Identification of glucokinase mutation in subjects with post-renal transplantation diabetes mellitus.

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

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

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

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

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

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

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

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

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

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 11372010 2001 Neonatal diabetes mellitus due to complete glucokinase deficiency.

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

PMID 8168652 1994 Six mutations in the glucokinase gene identified in MODY by using a nonradioactive sensitive screening technique.

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

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

PMID 19564454 2009 Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families.

PMID 17204055 2007 Six novel mutations in the GCK gene in MODY patients.

PMID 19339519 2009 Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

PMID 14517946 2003 Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

PMID 20337973 2010 Glucokinase diabetes in 103 families from a country-based study in the Czech Republic: geographically restricted distribution of two prevalent GCK mutations.

PMID 24735133 2015 Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype.

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

PMID 12442280 2002 GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY).

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

PMID 22820548 2012 GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation.

rs1057524904 in LOC105375258;GCK gene and Hyperglycemia PMID 17204055 2007 Six novel mutations in the GCK gene in MODY patients.

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

PMID 19564454 2009 Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families.

PMID 14517946 2003 Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.

PMID 19339519 2009 Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

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

PMID 24735133 2015 Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype.

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

PMID 12442280 2002 GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY).

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

PMID 22820548 2012 GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation.

rs144723656 in LOC105375258;GCK gene and Maturity onset diabetes mellitus in young PMID 10753050 2000 A high prevalence of glucokinase mutations in gestational diabetic subjects selected by clinical criteria.

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

PMID 29284910 2017 Virtual Screening and Prediction of Binding of Caprine CSN1S2 Protein Tryptic Peptides to Glucokinase.

PMID 28842611 2017 Evidence-based tailoring of bioinformatics approaches to optimize methods that predict the effects of nonsynonymous amino acid substitutions in glucokinase.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 27080136 2016 Common and rare forms of diabetes mellitus: towards a continuum of diabetes subtypes.

PMID 12627330 2003 Genetic epidemiology of MODY in the Czech republic: new mutations in the MODY genes HNF-4alpha, GCK and HNF-1alpha.

PMID 25306193 2014 Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.

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

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

PMID 10525657 1999 Mutants of glucokinase cause hypoglycaemia- and hyperglycaemia syndromes and their analysis illuminates fundamental quantitative concepts of glucose homeostasis.

PMID 10426385 1999 Characterization of glucokinase mutations associated with maturity-onset diabetes of the young type 2 (MODY-2): different glucokinase defects lead to a common phenotype.

PMID 25414397 2014 Low prevalence of HNF1A mutations after molecular screening of multiple MODY genes in 58 Italian families recruited in the pediatric or adult diabetes clinic from a single Italian hospital.

PMID 22389783 2011 GCK-MODY (MODY 2) Caused by a Novel p.Phe330Ser Mutation.

PMID 17079173 2007 Prevalence and clinical phenotype of the p.Val226Met glucokinase gene mutation in French Canadians in Quebec, Canada.

PMID 25555642 2015 Molecular genetic testing of patients with monogenic diabetes and hyperinsulinism.

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

PMID 12442280 2002 GCK and HNF1A mutations in Canadian families with maturity onset diabetes of the young (MODY).

PMID 21831042 2011 Mutational analysis of allosteric activation and inhibition of glucokinase.

PMID 24578721 2014 Evolution- and structure-based computational strategy reveals the impact of deleterious missense mutations on MODY 2 (maturity-onset diabetes of the young, type 2).

PMID 22820548 2012 GCK-MODY diabetes associated with protein misfolding, cellular self-association and degradation.

PMID 21921030 2011 Generation of N-ethyl-N-nitrosourea (ENU) diabetes models in mice demonstrates genotype-specific action of glucokinase activators.

rs1057524904 in LOC105375258;GCK gene and Monogenic diabetes PMID 19790256 2009 Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia.

PMID 17204055 2007 Six novel mutations in the GCK gene in MODY patients.

PMID 19564454 2009 Maturity-onset diabetes of the young in children with incidental hyperglycemia: a multicenter Italian study of 172 families.

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

PMID 19339519 2009 Human Splicing Finder: an online bioinformatics tool to predict splicing signals.

PMID 14517946 2003 Glucokinase (GCK) mutations in hyper- and hypoglycemia: maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemia of infancy.