Glucokinase regulatory protein
The GCKR gene encodes a protein that binds non-covalently to glucokinase an enzyme that is involved in glucose metabolism in the liver and insulin secretion in pancreas islets. Genetic variation are associated with elevated fasting glucose levels and familial combined hyperlipidemia.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Suhre K et al. (2011) Human metabolic individuality in biomedical and pharmaceutical research.
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2. |
Weissglas-Volkov D et al. (2010) Investigation of variants identified in caucasian genome-wide association studies for plasma high-density lipoprotein cholesterol and triglycerides levels in Mexican dyslipidemic study samples.
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3. |
Lloyd DJ et al. (2013) Antidiabetic effects of glucokinase regulatory protein small-molecule disruptors.
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4. |
Dupuis J et al. (2010) New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
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5. |
Beer NL et al. (2009) The P446L variant in GCKR associated with fasting plasma glucose and triglyceride levels exerts its effect through increased glucokinase activity in liver.
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6. |
Orho-Melander M et al. (2008) Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations.
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7. |
Vaxillaire M et al. (2008) The common P446L polymorphism in GCKR inversely modulates fasting glucose and triglyceride levels and reduces type 2 diabetes risk in the DESIR prospective general French population.
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8. |
Grimsby J et al. (2000) Characterization of glucokinase regulatory protein-deficient mice.
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9. |
Farrelly D et al. (1999) Mice mutant for glucokinase regulatory protein exhibit decreased liver glucokinase: a sequestration mechanism in metabolic regulation.
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10. |
Hayward BE et al. (1998) Organization of the human glucokinase regulator gene GCKR.
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11. |
Hayward BE et al. (1996) Co-localization of the ketohexokinase and glucokinase regulator genes to a 500-kb region of chromosome 2p23.
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12. |
Warner JP et al. (1995) Human glucokinase regulatory protein (GCKR): cDNA and genomic cloning, complete primary structure, and chromosomal localization.
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13. |
Vaxillaire M et al. (1994) Search for a third susceptibility gene for maturity-onset diabetes of the young. Studies with eleven candidate genes.
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14. |
Cefalù AB et al. () Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.
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15. |
NCBI article
NCBI 2646
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16. |
OMIM.ORG article
Omim 600842
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17. |
Wikipedia article
Wikipedia EN (Glucokinase_regulatory_protein)
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Update: Aug. 14, 2020