Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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

Cefalù AB et. al. () Identification of a novel LMF1 nonsense mutation responsible for severe hypertriglyceridemia by targeted next-generation sequencing.

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2.

Suhre K et. al. (2011) Human metabolic individuality in biomedical and pharmaceutical research.

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3.

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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4.

Warner JP et. al. (1995) Human glucokinase regulatory protein (GCKR): cDNA and genomic cloning, complete primary structure, and chromosomal localization.

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5.

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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6.

Hayward BE et. al. (1998) Organization of the human glucokinase regulator gene GCKR.

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7.

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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8.

Grimsby J et. al. (2000) Characterization of glucokinase regulatory protein-deficient mice.

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9.

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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10.

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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11.

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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12.

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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13.

Lloyd DJ et. al. (2013) Antidiabetic effects of glucokinase regulatory protein small-molecule disruptors.

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14.

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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Update: Sept. 26, 2018