CIDeRplus9.09 MODY9 Maturity onset diabetes of the young, type IX
The paired box gene 4 (PAX4) protein is a nuclear transcription factor that regulates beta cell differentiation and represses the activity of INS and glucagon promoters. Heterozygous mutations in the PAX4 gene cause abnormal beta cell development and lead to beta cell dysfunction and impaired glucose-stimulated insulin secretion. PAX4-MODY is characterized by ketosis-prone diabetes mellitus (PMID:33292863).
List all interactions
Display GraphStatistics
| Interactions | 28 | Proteins/Genes | 10 | Chemical compounds/drugs | 0 |
| Biological Process(GO) | 4 | Phenotype | 1 |
Proteins/Genes
| PAX4 | 21 |
| INS | 4 |
| GCG | 4 |
| PAX4-c.374-412 del39 | 3 |
| PAX4-p.R164Q | 1 |
| PAX4-p.R31L | 1 |
| PAX4-p.Q250del | 1 |
| SLC2A2 | 1 |
| PDX1 | 1 |
| PAX4 IVS7-1G>A | 1 |
Biological Process(GO)
| type B pancreatic cell apoptotic process | 2 |
| type B pancreatic cell development | 1 |
| type B pancreatic cell proliferation | 1 |
| insulin secretion involved in cellular response to glucose stimulus | 1 |