CIDeRplusGeneral Information:
| Id: | 5,481 (click here to show other Interactions for entry) |
| Diseases: |
Diabetes mellitus, type II
- [OMIM]
Insulin resistance MODY, type IX - [OMIM] |
| Homo sapiens | |
| Japanese | |
| article | |
| Reference: | Shimajiri Y et al.(2001) A missense mutation of Pax4 gene (R121W) is associated with type 2 diabetes in Japanese Diabetes 50: 2864-2869 [PMID: 11723072] |
Interaction Information:
| Comment | Pax4 is one of the transcription factors that play an important role in the differentiation of islet beta-cells. The Pax4 gene was scanned in 200 unrelated Japanese type 2 diabetic patients and a missense mutation (R121W) was found in 6 heterozygous patients and 1 homozygous patient (mutant allele frequency 2.0%). The mutation was not found in 161 nondiabetic subjects. The R121W mutation was located in the paired domain and was thought to affect its transcription activity through lack of DNA binding. |
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Formal Description Interaction-ID: 131878 |
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