Glukokinase regulierendes Protein
Das GCKR-Gen kodiert ein Protein, welches nicht-kovalent an Glukokinase bindet und damit die regulatorische Rolle dieses Enzyms im Glukosestoffwechsel und bei der Insulinsekretion beeinflusst. Mutationen in diesem Gen wurden im Zusammenhang mit veränderten Nüchtern-Blutzuckerspiegeln und der familiären kombinierten Hyperlipämie beobachtet.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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 Artikel
Wikipedia DE (Glucokinase-Regulator)
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Update: 14. August 2020