Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Kombinierte familiäre Hyperlipämie mit VLDL-Überproduktion
APOE
GCKR
OSBPL10
USF1
Nüchtenblutzucker beeinflussende Genloci
G6PC2
GCKR
Gestörte Regulatoren des Lipid- und Kohlenhydratstoffwechsels
GCKR
GPD1
MLXIPL
TRIB1

Referenzen:

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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