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

Referenzen:

1.

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

[^]
2.

Vaxillaire M et. al. (1994) Search for a third susceptibility gene for maturity-onset diabetes of the young. Studies with eleven candidate genes.

[^]
3.

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

[^]
4.

Hayward BE et al. (1996) Co-localization of the ketohexokinase and glucokinase regulator genes to a 500-kb region of chromosome 2p23.

[^]
5.

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

[^]
6.

Farrelly D et. al. (1999) Mice mutant for glucokinase regulatory protein exhibit decreased liver glucokinase: a sequestration mechanism in metabolic regulation.

[^]
7.

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

[^]
8.

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.

[^]
9.

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.

[^]
10.

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.

[^]
11.

Dupuis J et. al. (2010) New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.

[^]
12.

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

[^]
13.

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.

[^]

 

 
Ihre Nachricht: