Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Glucose-6-Phosphatase 2

Das G6PC2-Gen kodiert eine inselzellspezifische Glucose-6-Phosphatase, die eine besondere Rolle bei der Glukosehomöostase zu spielen scheint. Das protein it das Zielantigen bei autoimmun Diabetes Typ 1 und mit verscheidenen Polymorphismen ist ein erhöhter Nüchternblutzucker assoziiert worden.

Diagnostik:

Clinic 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:

Nüchtenblutzucker beeinflussende Genloci
G6PC2
GCKR

Referenzen:

1.

Neophytou PI et. al. (1996) A subtractive cloning approach to the identification of mRNAs specifically expressed in pancreatic beta-cells.

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2.

DiLorenzo TP et. al. (1998) Major histocompatibility complex class I-restricted T cells are required for all but the end stages of diabetes development in nonobese diabetic mice and use a prevalent T cell receptor alpha chain gene rearrangement.

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3.

Arden SD et. al. (1999) Molecular cloning of a pancreatic islet-specific glucose-6-phosphatase catalytic subunit-related protein.

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4.

Ebert DH et. al. (1999) Structure and promoter activity of an islet-specific glucose-6-phosphatase catalytic subunit-related gene.

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5.

Martin CC et. al. (2001) Cloning and characterization of the human and rat islet-specific glucose-6-phosphatase catalytic subunit-related protein (IGRP) genes.

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6.

Pociot F et. al. (2002) Genetics of type 1 diabetes mellitus.

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7.

Lieberman SM et. al. (2003) Identification of the beta cell antigen targeted by a prevalent population of pathogenic CD8+ T cells in autoimmune diabetes.

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8.

Hutton JC et. al. (2003) A pancreatic beta-cell-specific homolog of glucose-6-phosphatase emerges as a major target of cell-mediated autoimmunity in diabetes.

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