CIDeRplusGeneral Information:
| Id: | 2,991 (click here to show other Interactions for entry) |
| Diseases: |
Diabetes mellitus, type II
- [OMIM]
Insulin resistance MODY, type IX - [OMIM] Nephropathy, diabetic |
| Homo sapiens | |
| Thai | |
| article | |
| Reference: | Plengvidhya N et al.(2007) PAX4 mutations in Thais with maturity onset diabetes of the young J. Clin. Endocrinol. Metab. 92: 2821-2826 [PMID: 17426099] |
Interaction Information:
| Comment | Previous studies showed that PAX4 represses the activity of the insulin and glucagon promoters. To assess whether the R164W mutation affects such function, the authors transiently transfected MIN6 cells, which have characteristics similar to those of isolated islets, with allelic forms of the PAX4 cDNA together with an insulin promoter-firefly luciferase reporter system. The wild-type PAX4 repressed the insulin promoter activity by about 50%. By contrast, the R164W mutant repressed the promoter by only 35%. Similar results were obtained with a human glucagon pro- moter reporter system in alpha-TC1.6 cells. The PAX4 wild type repressed the promoter activity by 57%, whereas the R164W repressed it by only 35%. These differences between wild type and mutant were not due to differences in transfection efficiencies or in the expression of the transfected constructs. |
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Formal Description Interaction-ID: 53290 |
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