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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
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Combined familial hyperlipidemia with VLDL overproduction
APOE
GCKR
OSBPL10
USF1
Fasting plasma glucose trait loci
G6PC2
GCKR
Disturbed regulators of lipid and carbohydrate metabolism
GCKR
GPD1
MLXIPL
TRIB1

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 external link
16.

OMIM.ORG article

Omim 600842 external link
17.

Wikipedia article

Wikipedia EN (Glucokinase_regulatory_protein) external link
Update: Aug. 14, 2020
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