Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Glucose-6-phosphatase 2

The G6PC2 gene encodes an islet-specific glucose-6-phophatase, which seems to be involved in blood sugar regulation. The protein is a trarget antigen in autoimmune diabetes type 1 and polymorphisms seem to influence fasting glucose levels.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Fasting plasma glucose trait loci
G6PC2
GCKR

References:

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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Update: Sept. 26, 2018