GCK Antibody

1. Our results suggest that the polymorphism of CYP3A4 *18B and GCK G-30A might affect the new-onset diabetes after transplantation (NODAT) development under tacrolimus-based immunotherapy. We suspect that the depression of GCK function may be a crucial pathogenic factor of tacrolimus-induced NODAT in variant carrier with A allele of GCK, but not be simply reflecting of glucose change. PMID: 29546446
2. Data suggest that the following genetic modifications are involved in neonatal diabetes mellitus patients in Oman: (1) mutation in KCNJ11 (potassium voltage-gated channel subfamily J member 11; one patient); (2) mutation in GCK (glucokinase); (3) mutation in SLC2A2 (glucose transporter type 2); (4) chromosome 6q24 methylation abnormalities. PMID: 29329106
3. GCK gene mutations were detected in Chinese children and their family members with typical clinical features of glucokinase-maturity-onset diabetes of the young. Four novel mutations were detected. PMID: 29510678
4. The studies screening criteria allowed for the identification of glucokinase (GCK)-deficient patients who were diagnosed with gestational diabetes, and these mutations in the GCK gene were not common in Chinese women with gestational diabetes. PMID: 28371533
5. Functional characterization of MODY2 mutations in the nuclear export signal of glucokinase. PMID: 29704611
6. 44 different mutations affecting the GCK and co-segregating with the clinical phenotype of MODY were identified. PMID: 28726111
7. Twenty-five different variants were identified in GCK gene (30 probands-61% of positivity), and 7 variants in HNF1A (10 probands-17% of positivity). Fourteen of them were novel (12- GCK /2- HNF1A ). ACMG guidelines were able to classify a large portion of variants as pathogenic (36%- GCK /86%- HNF1A ) and likely pathogenic (44%- GCK /14%- HNF1A ), with 16% (5/32) as uncertain significance. PMID: 28170077
8. a nuclear import of glucokinase mediated by a redundant mechanism, involving a nuclear localization signal, and which is modulated by its SUMOylation, is reported. PMID: 28648619
9. La variante confirmada of the glucokinase gene para esta familia es c.148C>T, p.His50Tyr. Tiene caracter patogenico, dado que produce una disminucion de la actividad enzimatica de GCK y ha sido reportada en la literatura PMID: 29424410
10. described the clinical and genetic presentation of four families with activating GCK mutations The clinical phenotype of the GCK activating mutation carriers was heterogeneous, the severity of symptoms and age at presentation varied markedly between affected individuals, even within the same family. PMID: 28247534
11. the contribution of the Maturity Onset Diabetes of the Young gene GCK in the etiology of 23 unrelated Tunisian families PMID: 29408271
12. GCK-dependent glycolysis regulates Treg cell migration. PMID: 29166588
13. Mutations in the GCK gene were identified in 79 out of 177. PMID: 29056535
14. GCK GCK GCK GCK PMID: 28783164
15. GCK gene mutations (pathogenic or likely pathogenic variants) and a novel intronic variant of uncertain significance (c.208 + 3A>T) were identified in 13/54 probands (24%). PMID: 27256595
16. Data suggest that hepatic glucokinase activity is regulated by reversible binding to specific inhibitor protein glucokinase regulatory protein (GKRP) and by binding to activator proteins such as 6-phosphofructo-2-kinase/fructose 2,6-bisphosphatase (PFK2/FBP2); changes in glucokinase expression and activity are associated with poorly controlled type 2 diabetes and nonalcoholic fatty liver disease. [REVIEW] PMID: 27146014
17. GCK expression is regulated by nutrient-sensing O-linked beta-N-acetylglucosaminylation cycling in liver. PMID: 27520373
18. GCK mutations are associated with MODY2. PMID: 27269892
19. Glucokinase mutations are associated with Maturity-Onset Diabetes of the Young. PMID: 27634015
20. The results show that p.Leu77Arg but not p.Val101Met GCK mutation is considered a pathogenic mutation associated with maturity onset diabetes of the young. PMID: 27185633
21. GCK mutations are associated with Maturity onset diabetes of youth. PMID: 26669242
22. glucokinase mutation is associated with Maturity-Onset Diabetes of the Young, Type 2. PMID: 27016322
23. The number of mutations in GCK/MODY2 or even other MODY-related genes is undoubtedly underestimated, as accepted criteria for performing genetic tests include family history of the pathology. PMID: 27289208
24. Plasma ghrelin is higher in glucokinase-maturity onset diabetes of the young than in the common polygenic forms of diabetes. PMID: 25987348
25. Given that acetylated GKRP may affiliate with type-2 diabetes mellitus (T2DM), understanding the mechanism of GKRP acetylation in the liver could reveal novel targets within the GK-GKRP pathway, for treating T2DM and other metabolic pathologies. PMID: 26620281
26. The results of this study showed that mutations in the GCK gene are the leading cause of maturity-onset diabetes of the young in our population PMID: 26226118
27. DR of any degree was not present in our GCK-MODY group, while in spite of young age almost every fourth subject with HNF1A-MODY showed signs of this complication. PMID: 26240958
28. Complete sequencing of the GCK gene, carried out in the patient, identified a novel mutation c.1268T>A (p.Phe423Tyr) in exon 10 of the gene GCK in heterozygosity. Further studies revealed the same mutation in her mother and maternal grandfather PMID: 23843579
29. Thus, a glucokinase activator drug therapy may help MODY2 patients not in general, but seems to be a useful strategy for carriers of the L315H glucokinase mutation. PMID: 26208450
30. This is the first report that presents a significant association of polymorphism rs2268574 in Glucokinase gene with gestational Diabetes mellitus patients. PMID: 24495862
31. structural variations in in exons 10 and 11 due to mutations could be one of the strongest reasons for the hyperglycemic levels in these type 2 diabetic patients PMID: 24720358
32. Aberrant methylation of the GCK gene body was significantly associated with the risk of essential hypertension. PMID: 25892191
33. High levels of HbA1c were associated with an increased risk of recurrence of atrial tachyarrhythmia in patients with T2DM and PAF undergoing catheter ablation. PMID: 25336239
34. analysis of allosteric activation mechanisms in monomeric human glucokinase PMID: 26283387
35. The meta-analysis showed that GCK-30G > A polymorphism was associated with GDM in Caucasian and Asian. PMID: 25633883
36. Patients had higher fasting and postprandial glycemic excursions in the first trimester of GCK mutation MODY pregnancies than HNF-1alpha mutation MODY pregnancies despite insulin treatment. There was an increased percentage of miscarriages in GCK pregnancies. PMID: 25935773
37. Two novel GCK splicing mutations in Maturity Onset Diabetes of Young 2 have been characterized. PMID: 25850297
38. A heterozygous activating mutation, p.Val389Leu, was found in the proband and four other family members with familial adult onset hyperinsulinism. PMID: 24890200
39. Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. PMID: 25015100
40. GCK mutations were found in 8 families, all patients with mild asymptomatic hyperglycaemia; 3 of them are novel: p.Asp365Asn, p.Gly81Asp and p.Val253Leu. PMID: 25174781
41. genetic association study in population in Japan: In study of 55 probands diagnosed at 0-14 years and 23 adult family members, 35 different mutations in GCK were identified as associated with MODY2 (glucokinase maturity-onset diabetes of the young). PMID: 24804978
42. Data suggest that brain glucokinase (especially in glial cells and neurons) plays key role in glucose sensing, feedback to pancreatic islets, and metabolic homeostasis. [REVIEW] PMID: 25200293
43. The hypomethylation of GCK gene-body was significantly associated with the risk of coronary heart disease. PMID: 24696842
44. Mutations in GCK, HNF1A or HNF4A genes were detected in 58 of 150 individuals. Parents of 28 probands were unavailable for further analysis, and in 19 probands the mutation was inherited from an asymptomatic parent. PMID: 24323243
45. meta-analysis indicated that the risk allele of the GCK -30G>A polymorphism may increase gestational diabetes mellitus and type 2 diabetes mellitus risk in whites, whereas additional studies are needed to confirm the effect of this polymorphism on both diseases in Asians and Africans PMID: 24520939
46. Common variation in GCK influences the rate of carbohydrate oxidation, 24 h energy expenditure and diabetes risk in Pima Indians. PMID: 24728127
47. Results suggest a model in which the primary structure of connecting loop I affects cooperativity by influencing conformational dynamics, without altering the equilibrium distribution of GCK conformations. PMID: 24723372
48. MODY 2-associated deleterious missense mutations in the GCK gene were found to alter the stability, flexibility, and solvent-accessible surface area of the protein. PMID: 24578721
49. Atf3-silencing reversed ethanol-mediated Gck down-regulation and beta-cell dysfunction, followed by the amelioration of impaired glucose tolerance and insulin resistance. PMID: 25074928
50. This is the first study of MODY 2 mutations from India and confirms the importance of considering GCK gene mutation screening in patients with mild early-onset hyperglycemia who are negative for beta-cell antibodies. PMID: 24405491

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HGNC: 4195

OMIM: 125851

KEGG: hsa:2645

STRING: 9606.ENSP00000223366

UniGene: Hs.1270