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.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Neophytou PI et al. (1996) A subtractive cloning approach to the identification of mRNAs specifically expressed in pancreatic beta-cells.
|
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.
|
3. |
Arden SD et al. (1999) Molecular cloning of a pancreatic islet-specific glucose-6-phosphatase catalytic subunit-related protein.
|
4. |
Ebert DH et al. (1999) Structure and promoter activity of an islet-specific glucose-6-phosphatase catalytic subunit-related gene.
|
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.
|
6. |
Pociot F et al. (2002) Genetics of type 1 diabetes mellitus.
|
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.
|
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.
|
9. |
NCBI article
NCBI 57818
|
10. |
OMIM.ORG article
Omim 608058
|
Update: 14. August 2020